- [Hereditary ataxias, spastic parapareses and neuropathies in Eastern Canada]
Département des Sciences Neurologiques, faculté de médecine de l université Laval, hôpital Enfant Jésus, CHAU de Québec, 1401, 18e rue, G1J 1Z4 Québec, Canada
Rev Neurol (Paris) 164:12-21. 2008
..We have summarized our current knowledge of the various hereditary ataxias, spastic parapareses and neuropathies in Eastern Canada. The study of the more common and homogenous features of these diseases has been largely completed...
- Early detection of structural abnormalities and cytoplasmic accumulation of TDP-43 in tissue-engineered skins derived from ALS patients
Acta Neuropathol Commun 3:5. 2015
- Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians
Department of Neurological Sciences, CHAUQ Enfant Jésus, Faculty of Medicine, Laval University, Quebec City, QC, Canada
Neuromuscul Disord 19:330-4. 2009
..The French-Canadian population shows wide phenotypic and genotypic heterogeneity in non-dystrophic myotonias...
- LRRK2 is not a significant cause of Parkinson's disease in French-Canadians
Faculty of Medicine, Laval University, Department of Neurological Sciences, CHAUQ Enfant Jésus, Quebec City, Quebec, Canada
Can J Neurol Sci 34:333-5. 2007
..An old founder mutation (G2019S) was found with high frequency in the North African Arabs (30%) and Ashkenazi Jews (18% )...
- Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population
Department of Neurological Sciences, CHAUQ Enfant Jésus, Quebec City, QC, Canada
Can J Neurol Sci 33:149-57. 2006
..We predict that the regional populations of Canada will allow the identification of new rare forms of hereditary ataxias, spastic parapareses and neuropathies, and contribute to the unravelling of the genetic basis of these entities...
- A case of familial Creutzfeldt-Jakob disease presenting with dry cough
Department of Neurological Sciences, CHAUQ Enfant Jésus, Laval University, Quebec City, QC, Canada
Can J Neurol Sci 33:243-5. 2006
..The 200k mutation within the gene encoding PrP, located on the short arm of chromosome 20, accounts for more than 70% of families with CJD worldwide...
- Clinical validity of the Mattis Dementia Rating Scale-2 in Parkinson disease with MCI and dementia
Ecole de Psychologie, Université Laval and Centre de recherche Université Laval Robert Giffard, Quebec City, QC, Canada
J Geriatr Psychiatry Neurol 25:100-6. 2012
..These findings suggest that MDRS-2 is a useful tool to identify dementia but that there might be a ceiling effect in the MDRS-2 cutoff score to diagnose MCI in PD...
- A novel mutation in a large French-Canadian family with LGMD1B
Faculty of Medicine, Laval University, Quebec City, Canada
Can J Neurol Sci 35:331-4. 2008
- Myotonia congenita--a cause of muscle weakness and stiffness
University of Laval, QC, Canada
Nat Clin Pract Neurol 2:393-9; quiz following 399. 2006
..A previous needle electromyogram had confirmed the presence of myotonia, but a muscle biopsy had revealed no evidence of dystrophy...
- Clinical and genetic study of autosomal recessive cerebellar ataxia type 1
Faculty of Medicine, Laval University, Department of Neurological Sciences, Centre Hospitalier Affilié Universitaire de Québec Enfant Jésus, 18th Street, Quebec City, Quebec, Canada
Ann Neurol 62:93-8. 2007
..Define the phenotype and genotype of a cluster of families with a relatively pure cerebellar ataxia referred to as autosomal recessive cerebellar ataxia type 1 (ARCA-1)...
- Cognitive impairment in ARCA-1, a newly discovered pure cerebellar ataxia syndrome
Département des Sciences Neurologiques Centre Hospitalier Affilié Enfant Jésus, Universite Laval, 1401, 18ième rue, Laval, QC, Canada G1J 1Z4
Cerebellum 9:443-53. 2010
..These deficits are correlated with an overall moderate impact on patient's autonomy. Our data favour an indirect participation of the dorsolateral prefrontal and posterior parietal cortical areas to the cerebrocerebellar circuit...
- SPG4 founder effect in French Canadians with hereditary spastic paraplegia
Inge A Meijer
Center for the Study of Brain Diseases, CHUM Research Center, Notre Dame Hospital, Montreal, QC, Canada
Can J Neurol Sci 34:211-4. 2007
..The aim of this study is to estimate the frequency of the c.G1801A mutation in the French Canadian (FC) population and to determine whether this mutation originates from a common ancestor...
- Autosomal dominant primary lateral sclerosis
Center for the Study of Brain Diseases, Universite de Montreal CHUM Research Center, Notre Dame Hospital, Montreal, QC, Canada
Neurology 68:1156-7. 2007
- Biophysical characterization of M1476I, a sodium channel founder mutation associated with cold-induced myotonia in French Canadians
Le Centre de recherche en neurosciences, Institut universitaire en santé mentale de Québec, 2601 Chemin de Canardière, Quebec, QC, G1J 2G3, Canada
J Physiol 590:2629-44. 2012
..Increased extracellular concentrations of potassium had no effect on either M1476I or WT currents. These results indicated that cooling can augment the disruption of the voltage dependence of fast inactivation by M1476I channels...
- Mattis Dementia Rating Scale 2: screening for MCI and dementia
Ecole de Psychologie, Université Laval and Centre de recherche Université Laval Robert Giffard, Quebec City, Quebec, Canada
Am J Alzheimers Dis Other Demen 26:389-98. 2011
..No difference was found between the MCI groups. The MDRS-2 is a suitable short scale for MCI and dementia screening but is not specific enough to differentiate between A-MCI and PD-MCI...
- Adrenomyeloneuropathy: report of a new mutation in a French Canadian female
Départment des Sciences Neurologiques, CHAUQ Hôpital Enfant Jésus, McGill University, QC, Canada
Can J Neurol Sci 32:261-3. 2005
..Female heterozygotes can be symptomatic, but they are frequently misdiagnosed as having multiple sclerosis...
- Analysis of the SORT1 gene in familial amyotrophic lateral sclerosis
Veronique V Belzil
Centre of Excellence in Neurosciences of Université de Montréal, CHUM Research Center, Montreal, QC H2L 4M1, Canada
Neurobiol Aging 33:1845.e7-9. 2012
- A novel TYMP mutation in a French Canadian patient with mitochondrial neurogastrointestinal encephalomyopathy
Département des Sciences Neurologiques, Centre Hospitalier Affilie Universitaire De Quebec, Hopital de l Enfant Jesus, Quebec, Canada
Clin Neurol Neurosurg 111:691-4. 2009
..We present herein the clinical, neuroimaging, neuromuscular, and molecular findings of the first French Canadian patient with MNGIE caused by a novel homozygous invariant splicing site (IVS5 +1 G>A) mutation of the TYMP gene...
- Intra-arterial milrinone for reversible cerebral vasoconstriction syndrome
Department of Neurological Sciences, CHA Enfant Jésus, Faculty of Medicine, Laval University, Quebec City, QC, Canada
Headache 49:142-5. 2009
..Within hours of neurological deterioration, she was treated with intra-arterial milrinone, a phosphodiesterase inhibitor, which resulted in a rapid and sustained neurological improvement...
- An Optimized Approach to Recover Secreted Proteins from Fibroblast Conditioned-Media for Secretomic Analysis
Division of Regenerative Medicine, Laval University Experimental Organogenesis Research Center LOEX, CHU de Québec Research Center Enfant Jésus HospitalQuébec, QC, Canada Department of Surgery, Faculty of Medicine, Laval UniversityQuébec, QC, Canada
Front Cell Neurosci 10:70. 2016
..Given the importance of secreted proteins as a source to elucidate the pathogenesis of rare diseases, especially neurological disorders, this approach may help to discover novel candidate biomarkers with potential clinical significance. ..
- From animal models to human disease: a genetic approach for personalized medicine in ALS
Department of Psychiatry and Neuroscience, Research Centre of Institut universitaire en santé mentale de Québec, Laval University, 2601 chemin de la Canardière, Quebec, QC, G1J 2G3, Canada
Acta Neuropathol Commun 4:70. 2016
..Promising gene therapies raised possibilities for treating differently the major mutations in familial ALS cases. ..
- Increased obstacle clearance in people with ARCA-1 results in part from voluntary coordination changes between the thigh and shank segments
Michael James Maclellan
Center for Interdisciplinary Research in Rehabilitation and Social Integration, Quebec Rehabilitation Institute, Quebec, QC, Canada
Cerebellum 10:732-44. 2011
..Further work is required to determine whether ataxia severity has an effect on the observed coordination variables...