A5015011690- Cardiomyopathy and Myosin Studies
- RNA Research and Splicing
- Genetic Neurodegenerative Diseases
- Glycogen Storage Diseases and Myoclonus
- Fibroblast Growth Factor Research
- Mitochondrial Function and Pathology
- Heat shock proteins research
- Muscle Physiology and Disorders
- RNA and protein synthesis mechanisms
- RNA regulation and disease
- Connective tissue disorders research
- Cardiovascular Effects of Exercise
- Lysosomal Storage Disorders Research
- Hereditary Neurological Disorders
- Microtubule and mitosis dynamics
- Genetic Syndromes and Imprinting
- Cellular transport and secretion
- Ion channel regulation and function
- Genetics and Neurodevelopmental Disorders
- Genetics and Physical Performance
- Nuclear Structure and Function
- Integrated Circuits and Semiconductor Failure Analysis
McGill University
2015-2025
Montreal Neurological Institute and Hospital
2014-2025
University of Pavia
2024
Imaging Center
2024
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...
Recessive mutations in the ubiquitously expressed POLR3A gene cause one of most frequent forms childhood-onset hypomyelinating leukodystrophy (HLD): POLR3-HLD. encodes largest subunit RNA Polymerase III (Pol III), which is responsible for transcription transfer RNAs (tRNAs) and a large array other small non-coding RNAs. In order to study central nervous system pathophysiology disease, we introduced French Canadian founder Polr3a mutation c.2015G > A (p.G672E) mice, generating homozygous...
Recessive mutations in the ubiquitously expressed POLR3A and POLR3B genes are most common cause of POLR3-related hypomyelinating leukodystrophy (POLR3-HLD), a rare childhood-onset disorder characterized by deficient cerebral myelin formation cerebellar atrophy. encode two catalytic subunits RNA Polymerase III (Pol III), which synthesizes numerous small non-coding RNAs. We recently reported that mice homozygous for Polr3a mutation c.2015G > A (p.Gly672Glu) have no neurological abnormalities...
Late-onset painful sensory neuropathies are usually acquired conditions associated with common diseases. Adult presentations of known hereditary forms often accompanied by other organ involvement. We recruited a large French-Canadian family dominantly inherited late-onset neuropathy. The main clinical feature is recurrent leg pain that progresses to constant paraesthesias in the feet and later hands. As it evolves, some patients develop mild ataxia. selected four affected individuals for...
Spinocerebellar ataxia 27B (SCA27B) is a common autosomal dominant caused by an intronic GAA•TTC repeat expansion in FGF14. Neuropathological studies have shown that neuronal loss largely restricted to the cerebellum. Although locus highly unstable during intergenerational transmission, it remains unknown whether exhibits cerebral mosaicism and progressive instability throughout life. We conducted analysis of FGF14 somatic across 156 serial blood samples from 69 individuals, fibroblasts,...
Spinocerebellar ataxia 27B (SCA27B) is a common autosomal dominant caused by an intronic GAA•TTC repeat expansion in
To report a novel imaging finding of bilateral dentate nuclei hyperintensities in case childhood-onset GAA-