@article{pmid40289591,

title = {Prevalence and Features of Misdiagnosis of Primary Psychiatric Disorders Among bvFTD Patients},

author = {Elvis-Raymond Mukwikwi and Sherri Lee Jones and Ana L Manera and Rebecca Salpeter and Giorgio Giulio Fumagalli and Dhamidhu Eratne and Matthew J Y Kang and Maxime Bertoux and Mira Didic and Kasper Katisko and Eino Solje and Alexander F Santillo and Robert Jr Laforce and Matthias L Schroeter and Jan Van den Stock and Mathieu Vandenbulcke and Alexandre Morin and Sterre de Boer and Yolande Pijnenburg and Simon Ducharme and },

doi = {10.1176/appi.neuropsych.20240238},

issn = {1545-7222},

year  = {2025},

date = {2025-04-01},

journal = {J Neuropsychiatry Clin Neurosci},

pages = {appineuropsych20240238},

abstract = {OBJECTIVE: Previous studies have reported misdiagnosis rates of nondegenerative primary psychiatric disorders of up to 50% among patients with behavioral variant frontotemporal dementia (bvFTD). The authors hypothesized that misdiagnosis rates have decreased over time because of an increased awareness and a better understanding of psychiatric prodromes of FTD.nnMETHODS: Retrospective data on past psychiatric trajectories of individuals with probable or definite bvFTD (N=609) were acquired from 12 sites of the Neuropsychiatric International Consortium on FTD. Symptom profiles, primary psychiatric disorder diagnoses, and treatment information were collected from medical records. The authors used descriptive statistics to characterize past diagnostic trajectories, chi-square and t tests to compare groups, and logistic regressions to determine risk factors for diagnostic errors.nnRESULTS: Of 609 bvFTD patients, 33% received a primary psychiatric disorder diagnosis after the onset of bvFTD symptoms but before a formal bvFTD diagnosis. In 13% (N=80) of all bvFTD cases, the diagnosis was retrospectively considered erroneous. The most common misdiagnosis was major depressive disorder, followed by anxiety disorders and psychosis. The remaining cases were classified as psychiatric prodromes (N=68) and comorbid conditions (N=42). Patients with misdiagnoses were significantly younger, by about 5.5 years, than those without such diagnoses and had higher rates of depressed mood, dietary changes, stereotypy, somatization, and anxiety symptoms. Only younger age predicted erroneous diagnoses.nnCONCLUSIONS: The rate of patients who were misdiagnosed as having primary psychiatric disorders was much lower than in previous reports, suggesting improvements in the quality of diagnostic assessments. Misdiagnoses were more common among younger patients, with some psychiatric symptoms being overrepresented in such cases.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid40285380,

title = {Developing digital health technologies for frontotemporal degeneration},

author = {Naomi Nevler and Debra Niehoff and Amanda M Gleixner and Shana Dodge and Adam P Vogel and Derek L Hill and Simon Ducharme and Adam M Staffaroni and Yana Yunusova and Rhoda Au and Brian Macwhinney and Bonnie Wong and Julia Parish-Morris and Andrew Geronimo and Bryan J Hansen and Zachary T Beattie and Diane T Stephenson and Adam L Boxer and Penny Dacks and Jonathan D Rohrer},

doi = {10.1002/alz.70082},

issn = {1552-5279},

year  = {2025},

date = {2025-04-01},

journal = {Alzheimers Dement},

volume = {21},

number = {4},

pages = {e70082},

abstract = {Frontotemporal degeneration (FTD) is a rare neurodegenerative disease in which patients can present with cognitive, behavioral, motor, and speech impairment. Currently, there are no approved therapies available to slow or halt disease progression. Detection and monitoring of patient symptoms is challenging for this heterogeneous disease and has negatively impacted progress in FTD clinical trials. Rapid technological advancements can promote the development of digital health technologies (DHTs) capable of capturing even the most subtle clinical impairments. DHTs are computing platforms being designed to measure meaningful aspects of disease onset and progression. Here we present some of the numerous tools currently being developed to measure changes in the functional domains that become impaired in FTD, challenges faced by developers, and a proposed roadmap for developing fit-for-purpose DHTs that will aid in the development of effective therapies for FTD. HIGHLIGHTS: DHTs are being developed to assess FTD onset and progression. Tool developers must overcome numerous challenges in creating effective applications. Guidance to tool developers aims to benefit FTD drug development and patient care.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid40277074,

title = {Sex differences in clinical phenotypes of behavioral variant frontotemporal dementia},

author = {Xulin Liu and Sterre C M de Boer and Kasey Cortez and Jackie M Poos and Ignacio Illán-Gala and Hilary Heuer and Leah K Forsberg and Kaitlin Casaletto and Molly Memel and Brian S Appleby and Sami Barmada and Andrea Bozoki and David Clark and Yann Cobigo and Ryan Darby and Bradford C Dickerson and Kimiko Domoto-Reilly and Douglas R Galasko and Daniel H Geschwind and Nupur Ghoshal and Neill R Graff-Radford and Ian M Grant and Ging-Yuek Robin Hsiung and Lawrence S Honig and Edward D Huey and David Irwin and Kejal Kantarci and Gabriel C Léger and Irene Litvan and Ian R Mackenzie and Joseph C Masdeu and Mario F Mendez and Chiadi U Onyike and Belen Pascual and Peter Pressman and Ece Bayram and Eliana Marisa Ramos and Erik D Roberson and Emily Rogalski and Arabella Bouzigues and Lucy L Russell and Phoebe H Foster and Eve Ferry-Bolder and Mario Masellis and John van Swieten and Lize Jiskoot and Harro Seelaar and Raquel Sanchez-Valle and Robert Laforce and Caroline Graff and Daniela Galimberti and Rik Vandenberghe and Alexandre de Mendonça and Pietro Tiraboschi and Isabel Santana and Alexander Gerhard and Johannes Levin and Sandro Sorbi and Markus Otto and Florence Pasquier and Simon Ducharme and Chris R Butler and Isabelle Le Ber and Elizabeth Finger and James B Rowe and Matthis Synofzik and Fermin Moreno and Barbara Borroni and Brad F Boeve and Adam L Boxer and Howie J Rosen and Yolande A L Pijnenburg and Jonathan D Rohrer and Maria Carmela Tartaglia and },

doi = {10.1002/alz.14608},

issn = {1552-5279},

year  = {2025},

date = {2025-04-01},

journal = {Alzheimers Dement},

volume = {21},

number = {4},

pages = {e14608},

abstract = {INTRODUCTION: Higher male prevalence in sporadic behavioral variant frontotemporal dementia (bvFTD) has been reported. We hypothesized differences in phenotypes between genetic and sporadic bvFTD females resulting in underdiagnosis of sporadic bvFTD females.nnMETHODS: We included genetic and sporadic bvFTD patients from two multicenter cohorts. We compared behavioral and cognitive symptoms, and gray matter volumes, between genetic and sporadic cases in each sex.nnRESULTS: Females with sporadic bvFTD showed worse compulsive behavior (p = 0.026) and language impairments (p = 0.024) compared to females with genetic bvFTD (n = 152). Genetic bvFTD females had smaller gray matter volumes than sporadic bvFTD females, particularly in the parietal lobe.nnDISCUSSION: Females with sporadic bvFTD exhibit a distinct clinical phenotype compared to females with genetic bvFTD. This difference may explain the discrepancy in prevalence between genetic and sporadic cases, as some females without genetic mutations may be misdiagnosed due to atypical bvFTD symptom presentation.nnHIGHLIGHTS: Sex ratio is equal in genetic behavioral variant of frontotemporal dementia (bvFTD), whereas more males are present in sporadic bvFTD. Distinct neuropsychiatric phenotypes exist between sporadic and genetic bvFTD in females. Phenotype might explain the sex ratio difference between sporadic and genetic cases.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid40260680,

title = {Disease-modifying effects of TMEM106B in genetic frontotemporal dementia: a longitudinal GENFI study},

author = {Saira S Mirza and Maurice Pasternak and Andrew D Paterson and Ekaterina Rogaeva and Maria C Tartaglia and Sara B Mitchell and Sandra E Black and Morris Freedman and David Tang-Wai and Arabella Bouzigues and Lucy L Russell and Phoebe H Foster and Eve Ferry-Bolder and Martina Bocchetta and David M Cash and Henrik Zetterberg and Aitana Sogorb-Esteve and John van Swieten and Lize C Jiskoot and Harro Seelaar and Raquel Sanchez-Valle and Robert Laforce and Caroline Graff and Daniela Galimberti and Rik Vandenberghe and Alexandre de Mendonça and Pietro Tiraboschi and Isabel Santana and Alexander Gerhard and Johannes Levin and Sandro Sorbi and Markus Otto and Florence Pasquier and Simon Ducharme and Chris Butler and Isabelle Le Ber and Elizabeth Finger and James B Rowe and Matthis Synofzik and Fermin Moreno and Barbara Borroni and Jonathan D Rohrer and Mario Masellis and },

doi = {10.1093/brain/awaf019},

issn = {1460-2156},

year  = {2025},

date = {2025-04-01},

journal = {Brain},

abstract = {Common variants within TMEM106B are associated with risk for frontotemporal lobar degeneration with TDP-43 pathology (FTLD-TDP). The G allele of the top single nucleotide polymorphism, rs1990622, confers protection against FTLD-TDP, including genetic cases due to GRN mutations or C9orf72 hexanucleotide repeat expansions. However, the effects of interaction between TMEM106B-rs1990622 and frontotemporal dementia (FTD) mutations on disease endophenotypes in genetic FTD are unknown. This longitudinal cohort study was embedded within the GENetic Frontotemporal dementia Initiative (GENFI). We included 518 participants from 222 families [209 non-carriers; 222 presymptomatic carriers (C9orf72  = 79; GRN = 101, MAPT = 42); 87 symptomatic carriers (C9orf72 = 45; GRN = 29; MAPT = 13)] followed for up to 7 years. Using linear mixed-effects models, we examined the effects of a triple interaction between TMEM106B-rs1990622G allele dosage (additive model: 0, 1 or 2 alleles) and autosomal dominant FTD mutations with clinical status, and time from baseline on (i) grey matter volume using a voxel-based analysis; (ii) serum neurofilament light chain (NfL) levels; and (iii) cognitive and behavioural measures. Mean age of participants was 47.9 ± 13.8 years, 58.1% were female and 61% had at least one G allele. C9orf72: rs1990622G allele dosage was associated with less atrophy within the right occipital region in presymptomatic carriers at baseline, and reduced atrophy rate within putamen and caudate nucleus, right frontotemporal regions, left cingulate and bilateral insular cortices in symptomatic carriers over time; lower NfL levels in presymptomatic carriers at baseline; better executive functions and language abilities in presymptomatic carriers; and maintained overall cognitive functions and behaviour in symptomatic carriers over time. GRN: rs1990622G allele dosage was associated with reduced grey matter atrophy rate within the right temporal and occipital regions in presymptomatic carriers, and within the right frontal cortex and insula over time in symptomatic carriers; lower serum NfL levels over time in presymptomatic carriers and lower NfL levels at both baseline and over time in symptomatic carriers; and better global cognitive performance at baseline and higher attention/processing speed scores over time in symptomatic carriers. MAPT: rs1990622G allele dosage was associated with reduced grey matter atrophy rate within the right inferior frontal gyrus in symptomatic carriers, but no effects on serum NfL or cognitive/behavioural measures. TMEM106B-rs1990622G allele dosage showed protective effects on multiple endophenotypes predominantly in GRN and C9orf72 groups. Therefore, TMEM106B genotype should be assessed in clinical trials, particularly of GRN- and C9orf72-related genetic FTD, due to its modifying effects on biomarker, imaging, cognitive and clinical outcomes.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid39893139,

title = {Use of lecanemab and donanemab in the Canadian healthcare system: Evidence, challenges, and areas for future research},

author = {Eric E Smith and Natalie A Phillips and Howard H Feldman and Michael Borrie and Aravind Ganesh and Alexandre Henri-Bhargava and Philippe Desmarais and Andrew Frank and AmanPreet Badhwar and Laura Barlow and Robert Bartha and Sarah Best and Jennifer Bethell and Jaspreet Bhangu and Sandra E Black and Christian Bocti and Susan E Bronskill and Amer M Burhan and Frederic Calon and Richard Camicioli and Barry Campbell and D Louis Collins and Mahsa Dadar and Mari L DeMarco and Simon Ducharme and Simon Duchesne and Gillian Einstein and John D Fisk and Jodie R Gawryluk and Linda Grossman and Zahinoor Ismail and Inbal Itzhak and Manish Joshi and Arthur Harrison and Edeltraut Kröger and Sanjeev Kumar and Robert Laforce and Krista L Lanctot and Meghan Lau and Linda Lee and Mario Masellis and Fadi Massoud and Sara B Mitchell and Manuel Montero-Odasso and Karen Myers Barnett and Haakon B Nygaard and Stephen H Pasternak and Jody Peters and M Natasha Rajah and Julie M Robillard and Ken Rockwood and Pedro Rosa-Neto and Dallas P Seitz and Jean-Paul Soucy and Shanna C Trenaman and Cheryl L Wellington and Aicha Zadem and Howard Chertkow and },

doi = {10.1016/j.tjpad.2025.100068},

issn = {2426-0266},

year  = {2025},

date = {2025-03-01},

journal = {J Prev Alzheimers Dis},

volume = {12},

number = {3},

pages = {100068},

abstract = {Lecanemab and donanemab are monoclonal antibody therapies that remove amyloid-beta from the brain. They are the first therapies that alter a fundamental mechanism, amyloid-beta deposition, in Alzheimer disease (AD). To inform Canadian decisions on approval and use of these drugs, the Canadian Consortium on Neurodegeneration in Aging commissioned Work Groups to review evidence on the efficacy and safety of these new therapies, as well as their projected impacts on Canadian dementia systems of care. We included persons with lived experience with Alzheimer disease in the discussion about the benefits and harms. Our review of the trial publications found high quality evidence of statistically significant group differences, but also recognized that there are mixed views on the clinical relevance of the observed differences and the value of therapy for individual patients. The drugs are intended for persons with early AD, at a stage of mild cognitive impairment or mild dementia. If patients are treated, then confirmation of AD by positron emission tomography or cerebrospinal fluid analysis and monitoring for risk of amyloid-related imaging abnormalities was recommended, as done in the clinical trials, although it would strain Canadian resource capacity. More data are needed to determine the size of the potentially eligible treatment population in Canada.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid40008832,

title = {Plasma p-tau217 identifies cognitively normal older adults who will develop cognitive impairment in a 10-year window},

author = {Yara Yakoub and Fernando Gonzalez-Ortiz and Nicholas J Ashton and Christine Déry and Cherie Strikwerda-Brown and Frédéric St-Onge and Valentin Ourry and Michael Schöll and Maiya R Geddes and Simon Ducharme and Maxime Montembeault and Pedro Rosa-Neto and Jean-Paul Soucy and John C S Breitner and Henrik Zetterberg and Kaj Blennow and Judes Poirier and Sylvia Villeneuve and },

doi = {10.1002/alz.14537},

issn = {1552-5279},

year  = {2025},

date = {2025-02-01},

journal = {Alzheimers Dement},

volume = {21},

number = {2},

pages = {e14537},

abstract = {INTRODUCTION: We assessed the prognostic accuracy of plasma p-tau217 in predicting the progression to mild cognitive impairment (MCI) in cognitively unimpaired (CU) individuals over a mean follow-up of 5.65 years after plasma collection (range 1.01-10.47).nnMETHODS: We included 215 participants from the PREVENT-AD cohort with plasma Aβ and p-tau217, 159 with cerebrospinal fluid (CSF) Aβ and p-tau217, and 155 with F-NAV4694 and F-flortaucipir PET scans. MCI progression was determined by multidisciplinary consensus among memory experts blind to biomarker and genetic information.nnRESULTS: Cox proportional hazard models indicated a greater progression rate in A+T+ and A-T+ compared to A-T- individuals (HR = 7.81 [95% CI = 3.92 to 15.59] and HR = 4.25 [1.60-11.31] respectively). Similar results were found with CSF (HR = 3.63 [1.72-7.70]) and PET (HR = 9.30 [3.67-23.55]).nnDISCUSSION: Plasma p-tau217 is a prognostic marker for identifying individuals who will develop cognitive impairment within ten years.nnHIGHLIGHTS: Elevated plasma p-tau217 levels in CU individuals indicate future clinical progression. Adding plasma Aβ status to p-tau markers did not improve the prediction to MCI. All individuals with abnormal tau PET measured in a temporal meta-ROI progressed to MCI.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid39607834,

title = {Expert opinions on pharmacological symptomatic treatment of behavioral symptoms in frontotemporal dementia: A survey of the Neuropsychiatric International Consortium on Frontotemporal Dementia (NIC-FTD)},

author = {Dirk van Paassen and Luc Hartog and Sterre de Boer and Everard Vijverberg and Simon Ducharme and Yolande Pijnenburg and Alexander Santillo},

doi = {10.1111/ene.16537},

issn = {1468-1331},

year  = {2025},

date = {2025-01-01},

journal = {Eur J Neurol},

volume = {32},

number = {1},

pages = {e16537},

abstract = {BACKGROUND AND PURPOSE: Behavioral variant frontotemporal dementia (bvFTD) is essentially characterized by progressive changes in personality and cognition. Clinically, bvFTD presents with often profound behavioral symptomatology. Despite the high burden of these symptoms for both patients and caregivers, there is no general consensus on an effective pharmacological symptomatic treatment. Interestingly, for multiple similar symptoms in primary psychiatric disorders, there is consensus on an effective pharmacological treatment. The aim of this study is to explore currently preferred clinical practices in the pharmacological treatment of specific core behavioral symptoms in bvFTD by world-leading clinical experts.nnMETHODS: A digital survey was conducted among members of the Neuropsychiatric International Consortium on Frontotemporal Dementia, comprising neurologists, psychiatrists, and neuropsychiatrists. Respondents recommended pharmacological treatments targeting symptoms including disinhibition, apathy, loss of empathy, hyperorality, perseverative/compulsive behaviors, and positive psychotic symptoms.nnRESULTS: Of 48 respondents with a median experience of 11.5 years in treating bvFTD, disinhibition was most frequently targeted (58.4%), followed by perseverative/compulsive behaviors (46.5%). Recommended drug classes included atypical antipsychotics (35.1%), selective serotonin reuptake inhibitors (31.2%), antiepileptics (10.0%), serotonin antagonist and reuptake inhibitors (8.4%), benzodiazepines (4.0%), and others (11.4%).nnCONCLUSIONS: Our survey revealed diverse pharmacological treatment practices for behavioral symptoms in bvFTD, reflecting the expected radical heterogeneity in pharmacological treatment strategies. Notwithstanding this, results from this explorative survey could further inform future research directions, and thus in turn potentially aid in establishing more consensus on effective pharmacological management of bvFTD, while the field awaits the development of highly anticipated disease-modifying treatment(s).},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid40486666,

title = {Serum neurofilament light is superior to glial fibrillary acidic protein to distinguish sporadic frontotemporal dementia from late-onset primary psychiatric disorders: a retrospective DIPPA-FTD study},

author = {Sterre Catharina Maria de Boer and Chiara Fenoglio and Andrea Arighi and Lisa Wissink and Lina Riedl and Ishana Rue and Ramon Landin-Romero and Sophie Matis and Zac Chatterton and Glenda M Halliday and Janine Diehl-Schmid and Olivier Piguet and Inge M W Verberk and Charlotte E Teunissen and Simon Ducharme and Sven J van der Lee and Yolande A L Pijnenburg and Daniela Galimberti},

doi = {10.1136/bmjno-2024-001007},

issn = {2632-6140},

year  = {2025},

date = {2025-01-01},

journal = {BMJ Neurol Open},

volume = {7},

number = {1},

pages = {e001007},

abstract = {BACKGROUND: Sporadic behavioural variant frontotemporal dementia (bvFTD) is often misdiagnosed as late-onset primary psychiatric disorder (PPD). Previous research in small sample sizes has shown that neurofilament light (NfL) and glial fibrillary acidic protein (GFAP) are promising biomarkers to distinguish FTD from PPD. We aimed to investigate the discriminative value of NfL and GFAP in a multicentre cohort of sporadic bvFTD and late-onset PPD.nnMETHODS: In total, n=275 sporadic bvFTD and n=82 PPD were included from our DIPPA-FTD study. Baseline serum NfL and GFAP levels were measured using Simoa. Biomarker levels were compared between groups. The effect of age and sex on NfL and GFAP was measured using linear regression models. Discriminative accuracies were assessed using logistic regression models and receiver operating characteristic curves, corrected for age and sex. Within a subset of bvFTD patients who were deceased, the prognostic value of biomarkers was assessed by correlating disease duration (age at death minus age at blood sampling) with biomarker levels.nnRESULTS: Significantly higher serum median NfL and GFAP levels were found in sporadic bvFTD (NfL 33.3 pg/mL, IQR (19.6-49.6); GFAP 124.5 pg/mL, IQR (83.5-181.6)) compared with PPD (NfL 12.2 pg/mL, IQR (9.8-17.9); GFAP 68.9 pg/mL, IQR (50.6-95.0), both p<0.001). Discriminative performance was AUC=0.872 for NfL, AUC=0.787 for GFAP and AUC=0.878 for NfL+GFAP (DeLong's p for NfL+GFAP versus NfL AUCs: p=0.286). A shorter disease duration was significantly correlated with higher NfL, but not GFAP.nnCONCLUSION: Our study found that serum GFAP does not provide additional value as a discriminative marker compared with serum NfL alone when differentiating sporadic bvFTD from late-onset PPD.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid39990273,

title = {Frontotemporal dementia subtyping using machine learning, multivariate statistics and neuroimaging},

author = {Amelie Metz and Yashar Zeighami and Simon Ducharme and Sylvia Villeneuve and Mahsa Dadar},

doi = {10.1093/braincomms/fcaf065},

issn = {2632-1297},

year  = {2025},

date = {2025-01-01},

journal = {Brain Commun},

volume = {7},

number = {1},

pages = {fcaf065},

abstract = {Frontotemporal dementia (FTD) is a prevalent form of early-onset dementia characterized by progressive neurodegeneration and encompasses a group of heterogeneous disorders. Due to overlapping symptoms, diagnosis of FTD and its subtypes still poses a challenge. Magnetic resonance imaging (MRI) is commonly used to support the diagnosis of FTD. Using machine learning and multivariate statistics, we tested whether brain atrophy patterns are associated with severity of cognitive impairment, whether this relationship differs between the phenotypic subtypes and whether we could use these brain patterns to classify patients according to their FTD variant. A total of 136 patients (70 behavioural variant FTD, 36 semantic variant primary progressive aphasia and 30 non-fluent variant primary progressive aphasia) from the frontotemporal lobar degeneration neuroimaging initiative (FTLDNI) database underwent brain MRI and clinical and neuropsychological examination. Deformation-based morphometry, which offers increased sensitivity to subtle local differences in structural image contrasts, was used to estimate regional cortical and subcortical atrophy. Atlas-based associations between atrophy values and performance across different cognitive tests were assessed using partial least squares. We then applied linear regression models to discern the group differences regarding the relationship between atrophy and cognitive decline in the three FTD phenotypes. Lastly, we assessed whether the combination of atrophy and cognition patterns in the latent variables identified in the partial least squares analysis could be used as features in a machine learning model to predict FTD subtypes in patients. Results revealed four significant latent variables that combined accounted for 86% of the shared covariance between cognitive and brain atrophy measures. Partial least squares-based atrophy and cognitive patterns predicted the FTD phenotypes with a cross-validated accuracy of 89.12%, with high specificity (91.46-97.15%) and sensitivity (84.19-93.56%). When using only MRI measures and two behavioural tests in the partial least squares and classification algorithms, ensuring clinical feasibility, our model was equally precise in the same participant sample (87.18%, specificity 76.14-92.00%, sensitivity 86.93-98.26%). Here, including only atrophy or behaviour patterns in the analysis led to prediction accuracies of 69.76% and 76.54%, respectively, highlighting the increased value of combining MRI and clinical measures in subtype classification. We demonstrate that the combination of brain atrophy and clinical characteristics and multivariate statistical methods can serve as a biomarker for disease phenotyping in FTD, whereby the inclusion of deformation-based morphometry measures adds to the classification accuracy in the absence of extensive clinical testing.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid39887549,

title = {The higher benefit of lecanemab in males compared to females in CLARITY AD is probably due to a real sex effect},

author = {Daniel Andrews and Simon Ducharme and Howard Chertkow and Maria Pia Sormani and D Louis Collins and },

doi = {10.1002/alz.14467},

issn = {1552-5279},

year  = {2025},

date = {2025-01-01},

journal = {Alzheimers Dement},

volume = {21},

number = {1},

pages = {e14467},

abstract = {INTRODUCTION: The phase 3 trial CLARITY AD found lecanemab slowed cognitive decline by 27%. However, subgroup analyses indicated a significant 31% sex difference in the effect and suggested no or limited effectiveness in females. We used simulations constrained by the trial design to determine whether that difference reflects a pre-existing sex difference in Alzheimer's disease progression or was a random event.nnMETHODS: Simulations were generated using linear mixed models of cognitive decline fit to data from Alzheimer's Disease Neuroimaging Initiative participants satisfying CLARITY AD inclusion criteria.nnRESULTS: The statistically non-significant 7.9% smaller cognitive decline rate in our cohort's males versus females does not explain CLARITY AD's 31% sex difference in lecanemab's effect. A ≥ 31% difference occurred randomly in only 12 of our 10,000 simulations (0.0012 probability).nnDISCUSSION: CLARITY AD's sex difference was probably not random. Lecanemab is likely less effective in females than males, but we cannot conclude the drug is ineffective in females.nnHIGHLIGHTS: Lecanemab is more clinically effective in males than in females. Forest plots should only report subgroup-specific effects in well-powered subgroups. Trial simulations based on real data enable investigation of subgroup drug effects. We cannot conclude that lecanemab is clinically ineffective in females. A sex difference in lecanemab's efficacy could be linked to its action mechanism.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid40488179,

title = {Differentiating sporadic frontotemporal dementia from late-onset primary psychiatric disorders},

author = {Sterre C M de Boer and Lina Riedl and Simon Braak and Chiara Fenoglio and David Foxe and James Carrick and Ramón Landin-Romero and Sophie Matis and Zac Chatterton and Ishana Rue and Marie-Paule E van Engelen and Jay L P Fieldhouse and Mardien Oudega and Sigfried N T M Schouws and Welmoed A Krudop and Argonde C van Harten and Flora H Duits and Sven J van der Lee and Daniela Galimberti and Janine Diehl-Schmid and Glenda M Halliday and Simon Ducharme and Yolande A L Pijnenburg and Olivier Piguet},

doi = {10.1093/braincomms/fcaf199},

issn = {2632-1297},

year  = {2025},

date = {2025-01-01},

journal = {Brain Commun},

volume = {7},

number = {3},

pages = {fcaf199},

abstract = {Sporadic behavioural variant frontotemporal dementia (bvFTD) is often misdiagnosed as late-onset primary psychiatric disorder (PPD) due to overlapping symptoms and lack of biomarkers. We aimed to identify clinical features that distinguish sporadic bvFTD from PPD. Multi-centre baseline data were retrospectively retrieved and categorized into neuropsychological domains. Logistic regression models and receiver operating characteristic curves were conducted to determine discriminators. Data from 508 sporadic bvFTD and 152 PPD cases were included. Higher scores in cognitive screening [odds ratio (OR): 1.23], facial emotion processing (OR: 1.69), episodic memory (OR: 1.09), animal fluency (OR: 1.17), working memory (OR: 1.18), letter fluency (OR: 1.17) and depressive symptoms (OR: 7.41) were significantly associated with PPD (all s ≤ 0.010). Within a combined model, higher scores of letter fluency (OR: 1.47), cognitive screening (OR: 1.72) and lower attention (OR: 0.77) were significantly (all s ≤ 0.05) associated with PPD (area under the curve = 0.771). Neuropsychological measurements-letter fluency, cognitive screening and attention-can help distinguish sporadic bvFTD from late-onset PPD. Depressive symptoms and facial emotion processing emerged as potential discriminators, warranting further exploration.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid41245435,

title = {Thalamus involvement in genetic frontotemporal dementia assessed using structural and diffusion MRI: a GENFI study},

author = {Sonja Soskic and Henry F J Tregidgo and Emily G Todd and Arabella Bouzigues and David M Cash and Lucy L Russell and David L Thomas and Ian B Malone and Phoebe H Foster and Eve Ferry-Bolder and John C van Swieten and Lize C Jiskoot and Harro Seelaar and Raquel Sanchez-Valle and Robert Laforce and Caroline Graff and Daniela Galimberti and Rik Vandenberghe and Alexandre de Mendonça and Pietro Tiraboschi and Isabel Santana and Alexander Gerhard and Johannes Levin and Benedetta Nacmias and Markus Otto and Maxime Bertoux and Thibaud Lebouvier and Simon Ducharme and Christopher R Butler and Isabelle Le Ber and Elizabeth C Finger and Maria Carmela Tartaglia and Mario Masellis and James B Rowe and Matthis Synofzik and Fermin Moreno and Barbara Borroni and Daniel C Alexander and Juan Eugenio Iglesias and Jonathan D Rohrer and Martina Bocchetta and },

doi = {10.1093/braincomms/fcaf420},

issn = {2632-1297},

year  = {2025},

date = {2025-01-01},

journal = {Brain Commun},

volume = {7},

number = {6},

pages = {fcaf420},

abstract = {Thalamic subregions are commonly, but variably, affected by different forms of frontotemporal dementia. We aimed to better characterize thalamic subregional involvement in genetic frontotemporal dementia with a recently published thalamus segmentation tool that utilizes structural and diffusion MRI, offering additional assessment of mean diffusivity and a more fine-grained analysis of the pulvinar specifically compared to previous studies. Using this tool, we performed thalamus segmentations in MRI scans from ,  and  mutation carriers and mutation non-carriers with suitable 3-Tesla MRI cross-sectional data from the GENetic Frontotemporal dementia Initiative. Mutation carriers were divided according to their genetic group and Clinical Dementia Rating® Dementia Staging Instrument plus National Alzheimer's Coordinating Center Behaviour and Language Domains global score (0 or 0.5: presymptomatic/prodromal stage, 1 or higher: symptomatic stage). Following stringent quality control and harmonization across sites and scanners, we compared volumes and mean diffusivity values of thalamic subregions in  (47 presymptomatic, 10 symptomatic),  (57 presymptomatic, 11 symptomatic) and  (31 presymptomatic, 12 symptomatic) mutation carriers to those in 109 mutation non-carriers with analyses of covariance including age and sex (and total intracranial volume for volumetric comparisons) as covariates. Presymptomatic  expansion carriers showed smaller volumes (3-8% difference from non-carriers) and higher mean diffusivity (2-5% difference from non-carriers) for several thalamic subregions, including all pulvinar subdivisions. We found subtly larger volumes of the ventral anterior subregion and the non-medial pulvinar (3% difference from non-carriers for both) in presymptomatic  mutation carriers, and of the anteroventral subregion (5% difference from non-carriers) in presymptomatic  mutation carriers. Symptomatic mutation carriers in all three genetic groups showed significantly smaller volumes and widespread higher mean diffusivity of thalamic subregions compared with non-carriers, which were overall most prominent in subregions involved in associative and limbic functions (the midline, medial pulvinar, anteroventral, mediodorsal, laterodorsal and lateral posterior subregions). Notably smaller volume (12-23% difference from non-carriers) and higher mean diffusivity (16-23% difference from non-carriers) of the most medial part of the medial pulvinar was a shared feature across the three genetic groups at the symptomatic stage. Overall, our study confirms that thalamic subregions are affected in genetic frontotemporal dementia and identifies prominent involvement of the most medial part of the medial pulvinar as a potential unifying feature in the variable pattern of thalamic subregional involvement across the main genetic groups.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid39636028,

title = {Impact of a national dementia research consortium: The Canadian Consortium on Neurodegeneration in Aging (CCNA)},

author = {Howard Chertkow and Natalie Phillips and Kenneth Rockwood and Nicole Anderson and Melissa K Andrew and Robert Bartha and Camille Beaudoin and Nathalie Bélanger and Pierre Bellec and Sylvie Belleville and Howard Bergman and Sarah Best and Jennifer Bethell and Louis Bherer and Sandra Black and Michael Borrie and Richard Camicioli and Julie Carrier and Neil Cashman and Senny Chan and Lynden Crowshoe and Claudio Cuello and Max Cynader and Thanh Dang-Vu and Samir Das and Roger A Dixon and Simon Ducharme and Gillian Einstein and Alan C Evans and Margaret Fahnestock and Howard Feldman and Guylaine Ferland and Elizabeth Finger and John D Fisk and Jennifer Fogarty and Edward Fon and Ziv Gan-Or and Serge Gauthier and Carol Greenwood and Charlie Henri-Bellemare and Nathan Herrmann and David B Hogan and Robin Hsiung and Inbal Itzhak and Kristen Jacklin and Krista Lanctôt and Andrew Lim and Ian MacKenzie and Mario Masellis and Colleen Maxwell and Carrie McAiney and Katherine McGilton and JoAnne McLaurin and Alex Mihailidis and Zia Mohades and Manuel Montero-Odasso and Debra Morgan and Gary Naglie and Haakon Nygaard and Megan O'Connell and Ron Petersen and Randi Pilon and Maria Natasha Rajah and Mark Rapoport and Pamela Roach and Julie M Robillard and Ekaterina Rogaeva and Pedro Rosa-Neto and Jane Rylett and Joel Sadavoy and Peter St George-Hyslop and Dallas Seitz and Eric Smith and Bojana Stefanovic and Isabelle Vedel and Jennifer D Walker and Cheryl Wellington and Victor Whitehead and Walter Wittich},

doi = {10.1177/13872877241290990},

issn = {1875-8908},

year  = {2024},

date = {2024-12-01},

journal = {J Alzheimers Dis},

volume = {102},

number = {3},

pages = {535--561},

abstract = {The Canadian Consortium on Neurodegeneration in Aging (CCNA) was created by the Canadian federal government through its health research funding agency, the Canadian Institutes for Health Research (CIHR), in 2014, as a response to the G7 initiative to fight dementia. Two five-year funding cycles (2014-2019; 2019-2024) have occurred following peer review, and a third cycle (Phase 3) has just begun. A unique construct was mandated, consisting of 20 national teams in Phase I and 19 teams in Phase II (with research topics spanning from basic to clinical science to health resource systems) along with cross-cutting programs to support them. Responding to the needs of researchers within the CCNA teams, a unique sample of 1173 deeply phenotyped patients with various forms of dementia was accrued and studied over eight years (COMPASS-ND). In the second phase of funding (2019-2024), a national dementia prevention program (CAN-THUMBS UP) was set up. In a short time, this prevention program became a member of the World Wide FINGERS prevention consortium. In this article, the challenges, successes, and impacts of CCNA in Canada and internationally are discussed. Short-term deliverables have occurred, along with considerable promise of impacts in the longer term. The creation of synergy, networking, capacity building, engagement of people with lived experience, and economies of scale have contributed to the considerable success of CCNA by all measures. CCNA is evidence that an organized "centrally-organized" approach to dementia research can catalyze important progress nationally and yield significant and measurable results.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid39153518,

title = {Inflammatory plasma profile in genetic symptomatic and presymptomatic Frontotemporal Dementia - A GENFI study},

author = {Chiara Fenoglio and Maria Serpente and Marina Arcaro and Tiziana Carandini and Luca Sacchi and Manuela Pintus and Emanuela Rotondo and Vittoria Borracci and Laura Ghezzi and Arabella Bouzigues and Lucy L Russell and Phoebe H Foster and Eve Ferry-Bolder and John C van Swieten and Lize C Jiskoot and Harro Seelaar and Raquel Sánchez Valle and Robert Laforce and Caroline Graff and Rik Vandenberghe and Alexandre de Mendonça and Pietro Tiraboschi and Isabel Santana and Alexander Gerhard and Johannes Levin and Sandro Sorbi and Markus Otto and Florence Pasquier and Simon Ducharme and Chris R Butler and Isabelle Le Ber and Elizabeth Finger and Maria Carmela Tartaglia and Mario Masellis and James B Rowe and Matthis Synofzik and Fermin Moreno and Barbara Borroni and Jonathan D Rohrer and Andrea Arighi and Daniela Galimberti and },

doi = {10.1016/j.bbi.2024.08.030},

issn = {1090-2139},

year  = {2024},

date = {2024-11-01},

journal = {Brain Behav Immun},

volume = {122},

pages = {231--240},

abstract = {BACKGROUND: Inflammation has been proposed as a crucial player in neurodegeneration, including Frontotemporal Dementia (FTD). A few studies on sporadic FTD lead to inconclusive results, whereas large studies on genetic FTD are lacking. The aim of this study is to determine cytokine and chemokine plasma circulating levels in a large cohort of genetic FTD, collected within the GENetic Frontotemporal dementia Initiative (GENFI).nnMETHODS: Mesoscale technology was used to analyse levels of 30 inflammatory factors in 434 plasma samples, including 94 Symptomatic Mutation carriers [(SMC); 15 with mutations in Microtubule Associated Protein Tau (MAPT) 34 in Progranulin (GRN) and 45 in Chromosome 9 Open Reading Frame (C9ORF)72], 168 Presymptomatic Mutation Carriers (PMC; 34 MAPT, 70 GRN and 64 C9ORF72) and 173 Non-carrier Controls (NC)].nnRESULTS: The following cytokines were significantly upregulated (P<0.05) in MAPT and GRN SMC versus NC: Tumor Necrosis Factor (TNF)α, Interleukin (IL)-7, IL-15, IL-16, IL-17A. Moreover, only in GRN SMC, additional factors were upregulated, including: IL-1β, IL-6, IL-10, IL-12/IL-23p40, eotaxin, eotaxin-3, Interferon γ-induced Protein (IP-10), Monocyte Chemotactic Protein (MCP)4. On the contrary, IL-1α levels were decreased in SMC compared with NC. Significantly decreased levels of this cytokine were also found in PMC, independent of the type of mutation. In SMC, no correlations between disease duration and cytokine and chemokine levels were found. Considering NfL and GFAP levels, as expected, significant increases were observed in SMC as compared to NC. These differences in mean values remain significant even when stratifying symptomatic patients by the mutated gene (P<0.0001). Considering instead the levels of NfL, GFAP, and the altered inflammatory molecules, no significant correlations emerged.nnCONCLUSION: We showed that inflammatory proteins are upregulated in MAPT and GRN SMC, with some specific factors altered in GRN only, whereas no changes were seen in C9ORF72 carriers. Notably, only IL-1α levels were decreased in both SMC and PMC, independent of the type of causal mutation, suggesting common modifications occurring in the preclinical phase of the disease.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid39462825,

title = {Clinical considerations regarding suspected "BvFTD-by-proxy": a case series},

author = {Erin R Weinhold and Christina L Vaughan and Mary O'Hara and Elizabeth M Bloemen and Delia Bakeman and Simon Ducharme and Peter S Pressman},

doi = {10.1080/13554794.2024.2419177},

issn = {1465-3656},

year  = {2024},

date = {2024-08-01},

journal = {Neurocase},

volume = {30},

number = {4},

pages = {135--141},

abstract = {A diagnosis of behavioral variant frontotemporal dementia (bvFTD) often relies on informant reports of significant behavioral changes. "BvFTD-by-proxy" describes situations of neuropsychiatric changes reported solely by an informant under circumstances that may raise questions regarding their objectivity. We present three cases of bvFTD-like symptoms reported by spouses, where progression was unclear, testing showed mild but stable executive dysfunction, and neuroimaging was unremarkable. The subjective nature of bvFTD criteria leaves patients vulnerable to misleading informant reports, especially amid relational discord, and may threaten patient autonomy. Recognizing and managing this situation is critical but time-consuming, often requiring coordinated care across multiple providers.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid38609836,

title = {Clinical Accuracy of Serum Neurofilament Light to Differentiate Frontotemporal Dementia from Primary Psychiatric Disorders is Age-Dependent},

author = {Victoria Light and Sherri Lee Jones and Elham Rahme and Katerine Rousseau and Sterre de Boer and Lisa Vermunt and Mahdie Soltaninejad and Charlotte Teunissen and Yolande Pijnenburg and Simon Ducharme and For Signature Consortium},

doi = {10.1016/j.jagp.2024.03.008},

issn = {1545-7214},

year  = {2024},

date = {2024-08-01},

journal = {Am J Geriatr Psychiatry},

volume = {32},

number = {8},

pages = {988--1001},

abstract = {BACKGROUND: Symptoms of behavioral variant frontotemporal dementia (bvFTD) overlap with primary psychiatric disorders (PPD) making diagnosis challenging. Serum neurofilament light (sNfL) is a candidate biomarker to distinguish bvFTD from PPD, but large-scale studies in PPD are lacking.nnOBJECTIVE: Determine factors that influence sNfL from a large database of PPD patients, and test its diagnostic accuracy.nnDESIGN, SETTINGS, SUBJECTS, MEASUREMENTS: Clinical data of people aged 40-81 were obtained from healthy subjects (n = 69), and patients with PPD (n = 848) or bvFTD (n = 82). sNfL was measured using Simoa technology on an HD-X instrument. Data were analyzed using general linear models, and Receiver Operating Characteristic (ROC) curve analyses to determine global and age-specific sNfL cutoffs to distinguish bvFTD from PPD, using the Youden Index.nnRESULTS: sNfL increased with age, while sex, BMI and diabetes status were modestly associated with sNfL. sNfL was slightly higher in PPD than healthy subjects (14.1 versus 11.7 pg/mL), when controlling for covariates. sNfL was markedly lower in PPD than bvFTD (14.1 versus 44.1 pg/mL). sNfL could differentiate PPD from bvFTD with an AUC = 0.868, but the effect was driven by the younger subjects between age 40-60 years at a cutoff of 16.0 pg/mL. No valid cutoff was detected over age 60, however, values of sNfL above 38.5 pg/mL, or below 13.9 pg/mL, provided 90% diagnostic certainty of bvFTD or PPD, respectively.nnCONCLUSION: PPD have mildly elevated sNfL compared to healthy subjects but much lower than bvFTD. Results support the use of sNfL as a biomarker to differentiate PPD from bvFTD at age 60 or below, but accuracy decreases in older ages.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid38982845,

title = {Clinical recognition of frontotemporal dementia with right anterior temporal predominance: A multicenter retrospective cohort study},

author = {Hulya Ulugut and Maxime Bertoux and Kyan Younes and Maxime Montembeault and Giorgio G Fumagalli and Bedia Samanci and Ignacio Illán-Gala and Gregory Kuchcinski and Melanie Leroy and Jennifer C Thompson and Christopher Kobylecki and Alexander F Santillo and Elisabet Englund and Maria Landqvist Waldö and Lina Riedl and Jan Van den Stock and Mathieu Vandenbulcke and Rik Vandenberghe and Robert Laforce and Simon Ducharme and Peter S Pressman and Paulo Caramelli and Leonardo Cruz de Souza and Leonel T Takada and Hakan Gurvit and Oskar Hansson and Janine Diehl-Schmid and Daniela Galimberti and Florence Pasquier and Bruce L Miller and Philip Scheltens and Rik Ossenkoppele and Wiesje M van der Flier and Frederik Barkhof and Nick C Fox and Virginia E Sturm and Toji Miyagawa and Jennifer L Whitwell and Bradley Boeve and Jonathan D Rohrer and Maria Luisa Gorno-Tempini and Keith A Josephs and Julie Snowden and Jason D Warren and Katherine P Rankin and Yolande A L Pijnenburg and },

doi = {10.1002/alz.14076},

issn = {1552-5279},

year  = {2024},

date = {2024-08-01},

journal = {Alzheimers Dement},

volume = {20},

number = {8},

pages = {5647--5661},

abstract = {INTRODUCTION: Although frontotemporal dementia (FTD) with right anterior temporal lobe (RATL) predominance has been recognized, a uniform description of the syndrome is still missing. This multicenter study aims to establish a cohesive clinical phenotype.nnMETHODS: Retrospective clinical data from 18 centers across 12 countries yielded 360 FTD patients with predominant RATL atrophy through initial neuroimaging assessments.nnRESULTS: Common symptoms included mental rigidity/preoccupations (78%), disinhibition/socially inappropriate behavior (74%), naming/word-finding difficulties (70%), memory deficits (67%), apathy (65%), loss of empathy (65%), and face-recognition deficits (60%). Real-life examples unveiled impairments regarding landmarks, smells, sounds, tastes, and bodily sensations (74%). Cognitive test scores indicated deficits in emotion, people, social interactions, and visual semantics however, lacked objective assessments for mental rigidity and preoccupations.nnDISCUSSION: This study cumulates the largest RATL cohort unveiling unique RATL symptoms subdued in prior diagnostic guidelines. Our novel approach, combining real-life examples with cognitive tests, offers clinicians a comprehensive toolkit for managing these patients.nnHIGHLIGHTS: This project is the first international collaboration and largest reported cohort. Further efforts are warranted for precise nomenclature reflecting neural mechanisms. Our results will serve as a clinical guideline for early and accurate diagnoses.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid38623902,

title = {[Not Available]},

author = {Maurice Pasternak and Saira S Mirza and Nicholas Luciw and Henri J M M Mutsaerts and Jan Petr and David Thomas and David Cash and Martina Bocchetta and Maria Carmela Tartaglia and Sara B Mitchell and Sandra E Black and Morris Freedman and David Tang-Wai and Ekaterina Rogaeva and Lucy L Russell and Arabella Bouzigues and John C van Swieten and Lize C Jiskoot and Harro Seelaar and Robert Laforce and Pietro Tiraboschi and Barbara Borroni and Daniela Galimberti and James B Rowe and Caroline Graff and Elizabeth Finger and Sandro Sorbi and Alexandre de Mendonça and Chris Butler and Alex Gerhard and Raquel Sanchez-Valle and Fermin Moreno and Matthis Synofzik and Rik Vandenberghe and Simon Ducharme and Johannes Levin and Markus Otto and Isabel Santana and Antonio P Strafella and Bradley J MacIntosh and Jonathan D Rohrer and Mario Masellis and },

doi = {10.1002/alz.13750},

issn = {1552-5279},

year  = {2024},

date = {2024-05-01},

urldate = {2024-05-01},

journal = {Alzheimers Dement},

volume = {20},

number = {5},

pages = {3525--3542},

abstract = {INTRODUCTION: Effective longitudinal biomarkers that track disease progression are needed to characterize the presymptomatic phase of genetic frontotemporal dementia (FTD). We investigate the utility of cerebral perfusion as one such biomarker in presymptomatic FTD mutation carriers.nnMETHODS: We investigated longitudinal profiles of cerebral perfusion using arterial spin labeling magnetic resonance imaging in 42 C9orf72, 70 GRN, and 31 MAPT presymptomatic carriers and 158 non-carrier controls. Linear mixed effects models assessed perfusion up to 5 years after baseline assessment.nnRESULTS: Perfusion decline was evident in all three presymptomatic groups in global gray matter. Each group also featured its own regional pattern of hypoperfusion over time, with the left thalamus common to all groups. Frontal lobe regions featured lower perfusion in those who symptomatically converted versus asymptomatic carriers past their expected age of disease onset.nnDISCUSSION: Cerebral perfusion is a potential biomarker for assessing genetic FTD and its genetic subgroups prior to symptom onset.nnHIGHLIGHTS: Gray matter perfusion declines in at-risk genetic frontotemporal dementia (FTD). Regional perfusion decline differs between at-risk genetic FTD subgroups . Hypoperfusion in the left thalamus is common across all presymptomatic groups. Converters exhibit greater right frontal hypoperfusion than non-converters past their expected conversion date. Cerebral hypoperfusion is a potential early biomarker of genetic FTD.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid38643273,

title = {Eye movement function captured via an electronic tablet informs on cognition and disease severity in Parkinson's disease},

author = {Nils A Koch and Patrice Voss and J Miguel Cisneros-Franco and Alexandre Drouin-Picaro and Fama Tounkara and Simon Ducharme and Daniel Guitton and Étienne de Villers-Sidani},

doi = {10.1038/s41598-024-59750-9},

issn = {2045-2322},

year  = {2024},

date = {2024-04-01},

journal = {Sci Rep},

volume = {14},

number = {1},

pages = {9082},

abstract = {Studying the oculomotor system provides a unique window to assess brain health and function in various clinical populations. Although the use of detailed oculomotor parameters in clinical research has been limited due to the scalability of the required equipment, the development of novel tablet-based technologies has created opportunities for fast, easy, cost-effective, and reliable eye tracking. Oculomotor measures captured via a mobile tablet-based technology have previously been shown to reliably discriminate between Parkinson's Disease (PD) patients and healthy controls. Here we further investigate the use of oculomotor measures from tablet-based eye-tracking to inform on various cognitive abilities and disease severity in PD patients. When combined using partial least square regression, the extracted oculomotor parameters can explain up to 71% of the variance in cognitive test scores (e.g. Trail Making Test). Moreover, using a receiver operating characteristics (ROC) analysis we show that eye-tracking parameters can be used in a support vector classifier to discriminate between individuals with mild PD from those with moderate PD (based on UPDRS cut-off scores) with an accuracy of 90%. Taken together, our findings highlight the potential usefulness of mobile tablet-based technology to rapidly scale eye-tracking use and usefulness in both research and clinical settings by informing on disease stage and cognitive outcomes.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}

@article{pmid39121124,

title = {Long Non-Coding RNA Profile in Genetic Symptomatic and Presymptomatic Frontotemporal Dementia: A GENFI Study},

author = {Maria Serpente and Chiara Fenoglio and Marina Arcaro and Tiziana Carandini and Luca Sacchi and Manuela Pintus and Emanuela Rotondo and Vittoria Borracci and Laura Ghezzi and Arabella Bouzigues and Lucy L Russell and Phoebe H Foster and Eve Ferry-Bolder and John C van Swieten and Lize C Jiskoot and Harro Seelaar and Raquel Sánchez Valle and Robert Laforce and Caroline Graff and Rik Vandenberghe and Alexandre de Mendonça and Pietro Tiraboschi and Isabel Santana and Alexander Gerhard and Johannes Levin and Sandro Sorbi and Markus Otto and Florence Pasquier and Simon Ducharme and Chris R Butler and Isabelle Le Ber and Elizabeth Finger and Maria Carmela Tartaglia and Mario Masellis and James B Rowe and Matthis Synofzik and Fermin Moreno and Barbara Borroni and Jonathan D Rohrer and Andrea Arighi and Daniela Galimberti and },

doi = {10.3233/JAD-240557},

issn = {1875-8908},

year  = {2024},

date = {2024-01-01},

journal = {J Alzheimers Dis},

volume = {100},

number = {s1},

pages = {S187--S196},

abstract = {BACKGROUND: Long non-coding RNAs (lncRNAs) play crucial roles in gene regulation and are implicated in neurodegenerative diseases, including frontotemporal dementia (FTD). However, their expression patterns and potential as biomarkers in genetic FTD involving Chromosome 9 Open Reading Frame (C9ORF72), Microtubule Associated Protein Tau (MAPT), and Progranulin (GRN) genes are not well understood.nnOBJECTIVE: This study aimed to profile the expression levels of lncRNAs in peripheral blood mononuclear cells collected within the GENetic Frontotemporal dementia Initiative (GENFI).nnMETHODS: Fifty-three lncRNAs were analyzed with the OpenArray Custom panel, in 131 patients with mutations in C9ORF72, MAPT, and GRN, including 68 symptomatic mutation carriers (SMC) and 63 presymptomatic mutation carriers (PMC), compared with 40 non-carrier controls (NC).nnRESULTS: Thirty-eight lncRNAs were detectable; the relative expression of NEAT1 and NORAD was significantly higher in C9ORF72 SMC as compared with NC. GAS5 expression was instead significantly lower in the GRN group versus NC. MAPT carriers showed no significant deregulations. No significant differences were observed in PMC. Disease duration did not correlate with lncRNA expression.nnCONCLUSIONS: NEAT1 and NORAD are upregulated in C9ORF72 SMC and GAS5 levels are downregulated in GRN SMC, underlining lncRNAs' relevance in FTD and their potential for biomarker development. Further validation and mechanistic studies are crucial for clinical implications.},

keywords = {},

pubstate = {published},

tppubtype = {article}

}