David Pellerin
A5039670040- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Neurological disorders and treatments
- Glycogen Storage Diseases and Myoclonus
- Genetics and Neurodevelopmental Disorders
- Neurological and metabolic disorders
- Microtubule and mitosis dynamics
- Muscle Physiology and Disorders
- Genetic Syndromes and Imprinting
- Genomics and Rare Diseases
- Connective tissue disorders research
- Ophthalmology and Eye Disorders
- Cardiomyopathy and Myosin Studies
- Fibroblast Growth Factor Research
- DNA Repair Mechanisms
- Amyotrophic Lateral Sclerosis Research
- Erythrocyte Function and Pathophysiology
- Renal and related cancers
- Nuclear Structure and Function
- Advanced Proteomics Techniques and Applications
- Mass Spectrometry Techniques and Applications
- Neurogenetic and Muscular Disorders Research
- Vestibular and auditory disorders
- Neurological diseases and metabolism
- Vasculitis and related conditions
McGill University
2017-2025
Montreal Neurological Institute and Hospital
2019-2025
National Hospital for Neurology and Neurosurgery
2022-2025
University College London
2022-2025
Dr. John T. Macdonald Foundation
2024-2025
University of Miami
2024-2025
The University of Texas Southwestern Medical Center
2024
Université de Sherbrooke
2014-2024
King Fahd Medical City
2019-2024
Fondazione IRCCS Istituto Neurologico Carlo Besta
2024
The late-onset cerebellar ataxias (LOCAs) have largely resisted molecular diagnosis.We sequenced the genomes of six persons with autosomal dominant LOCA who were members three French Canadian families and identified a candidate pathogenic repeat expansion. We then tested for association between expansion disease in two independent case-control series - one (66 patients 209 controls) other German (228 199 controls). also genotyped 20 Australian 31 Indian index patients. assayed gene protein...
Abstract Ataxia due to an autosomal dominant intronic GAA repeat expansion in FGF14 [GAA-FGF14 ataxia, spinocerebellar ataxia 27B (SCA27B)] has recently been identified as one of the most common genetic late-onset ataxias. We here aimed characterize its phenotypic profile, natural history progression, and 4-aminopyridine (4-AP) treatment response. conducted a multi-modal cohort study 50 GAA-FGF14 patients, comprising in-depth phenotyping, cross-sectional longitudinal progression data (up 7...
Dominantly inherited GAA repeat expansions in FGF14 are a common cause of spinocerebellar ataxia (GAA-FGF14 ataxia; 27B). Molecular confirmation has thus far mostly relied on long-read sequencing, technology that is not yet widely available clinical laboratories. We developed and validated strategy to detect using long-range PCR, bidirectional repeat-primed PCRs, Sanger sequencing. compared this targeted nanopore sequencing cohort 22 French Canadian patients next it 53 index with unsolved...
Abstract Background Spinocerebellar ataxia type 4 (SCA4) is an autosomal dominant with invariable sensory neuropathy originally described in a family Swedish ancestry residing Utah more than 25 years ago. Despite tight linkage to the 16q22 region, molecular diagnosis has since remained elusive. Objectives Inspired by pathogenic structural variation implicated other 16q‐ataxias same locus, we revisited index SCA4 cases from using novel technologies investigate within candidate region. Methods...
GAA-FGF14 disease/spinocerebellar ataxia 27B is a recently described neurodegenerative disease caused by (GAA)
BackgroundAn intronic GAA repeat expansion in FGF14 was recently identified as a cause of GAA-FGF14 ataxia. We aimed to characterise the frequency and phenotypic profile ataxia large Chinese cohort.MethodsA total 1216 patients that included 399 typical late-onset cerebellar (LOCA), 290 early-onset (EOCA), 527 multiple system atrophy with predominant (MSA-c) were enrolled. Long-range repeat-primed PCR performed screen for expansions FGF14. Targeted long-read whole-genome sequencing determine...
Heterozygous GAA expansions in the FGF14 gene have been related to autosomal dominant cerebellar ataxia (SCA27B-MIM:620174). Whether they represent a common cause of sporadic late-onset (SLOCA) remains be established.To estimate prevalence, characterize phenotypic spectrum, identify discriminative features, and model longitudinal progression SCA27B prospective cohort SLOCA patients.FGF14 screening combined with deep-phenotyping 118 patients (onset >40 years age, no family history ataxia)...
Intronic GAA repeat expansions in the fibroblast growth factor 14 gene (
SCA27B caused by FGF14 intronic heterozygous GAA expansions with at least 250 repeats accounts for 10-60% of cases unresolved cerebellar ataxia. We aimed to assess the size and frequency expanded alleles in individuals ataxia as compared controls characterize genetic clinical variability.
Intronic FGF14 GAA repeat expansions have recently been found to be a common cause of hereditary ataxia (GAA-FGF14 ataxia; SCA27B). The global epidemiology and regional prevalence this newly reported disorder remain established. In study, we investigated the frequency GAA-FGF14 in large cohort Brazilian patients with unsolved adult-onset ataxia.We recruited 93 index genetically despite extensive genetic investigation genotyped locus. Patients were across 4 different regions Brazil.Of...
Abstract Background and purpose Dominantly inherited GAA repeat expansions in the fibroblast growth factor 14 ( FGF14 ) gene have recently been shown to cause spinocerebellar ataxia 27B (SCA27B). We aimed study frequency phenotype of SCA27B a cohort patients with unsolved late‐onset cerebellar (LOCA). also assessed relative other genetically defined LOCAs. Methods recruited consecutive series 107 LOCA, whom 64 remained undiagnosed. screened these for expansion. next analysed forms LOCA...
Abstract A pathogenic GAA repeat expansion in the first intron of fibroblast growth factor 14 gene ( FGF14 ) has been recently identified as cause spinocerebellar ataxia 27B (SCA27B). We herein screened 160 Greek index cases with late‐onset cerebellar (LOCA) for expansions using a combination long‐range PCR and bidirectional repeat‐primed PCRs. 19 (12%) carrying expansion, diagnostic yield higher than that previously repeat‐expansion ataxias LOCA patients. The age at onset SCA27B patients...
Abstract Oculopharyngodistal myopathy (OPDM) is an inherited manifesting with ptosis, dysphagia and distal weakness. Pathologically it characterised by rimmed vacuoles intranuclear inclusions on muscle biopsy. In recent years CGG • CCG repeat expansion in four different genes were identified OPDM individuals Asian populations. None of these have been found affected non-Asian ancestry. this study we describe the identification expansions ABCD3 , ranging from 118 to 694 repeats, 35 across...
Abstract RFC1 disease, caused by biallelic repeat expansion in RFC1, is clinically heterogeneous terms of age onset, disease progression and phenotype. We investigated the role size influencing clinical variables disease. also assessed presence meiotic somatic instability repeat. In this study, we identified 553 patients carrying expansions measured 392 cases. Pearson’s coefficient was calculated to assess correlation between at onset. A Cox model with robust cluster standard errors adopted...
GAA-FGF14 ataxia (SCA27B) is a recently reported late-onset caused by GAA repeat expansion in intron 1 of the FGF14 gene. After clinical observation superior cerebellar peduncle (SCP) involvement some affected patients, we sought to verify prevalence this finding our cohort and 4 additional independent cohorts patients with SCA27B. We performed retrospective review brain MRI scans total 87 (median age at 69 years; range 28-88 years) from different assess presence SCP involvement, defined as...
Fragile X syndrome (FXS) results from dynamic mutations leading ultimately to the absence of expression Mental Retardation Protein (FMRP). It is characterized by synaptic upregulated protein synthesis and immature dendritic spines associated with altered brain plasticity cognitive functions. Recent work in Fmr1 knockout mice has shown that lovastatin, an inhibitor Ras‐ERK1/2, normalized hippocampus synthesis. We hypothesize as a disease‐modifying drug, would counterweigh FMRP improve...
Ashton C