scholarly journals LRPPRCmutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

Brain ◽  
2015 ◽  
Vol 138 (12) ◽  
pp. 3503-3519 ◽  
Author(s):  
Monika Oláhová ◽  
Steven A. Hardy ◽  
Julie Hall ◽  
John W. Yarham ◽  
Tobias B. Haack ◽  
...  
Keyword(s):  
Mitochondrial Disease ◽  
Early Onset ◽  
French Canadian ◽  
Canadian Population

scholarly journals Identification of a chromosome 8p locus for early-onset coronary heart disease in a French Canadian population

2007 ◽  
Vol 16 (1) ◽  
pp. 105-114 ◽  
Author(s):  
James C Engert ◽  
Mathieu Lemire ◽  
Janet Faith ◽  
Diane Brisson ◽  
T Mary Fujiwara ◽  
...  
Keyword(s):  
Coronary Heart Disease ◽  
Heart Disease ◽  
Early Onset ◽  
French Canadian ◽  
Canadian Population ◽  
Chromosome 8P

Assessment of the prevalence of the 985A>G MCAD mutation in the French-Canadian population using allele-specific PCR

2007 ◽  
Vol 71 (6) ◽  
pp. 569-575 ◽  
Author(s):  
S Giroux ◽  
A Dubé-Linteau ◽  
G Cardinal ◽  
Y Labelle ◽  
N Laflamme ◽  
...  
Keyword(s):  
French Canadian ◽  
Specific Pcr ◽  
Canadian Population ◽  
Allele Specific ◽  
Allele Specific Pcr

scholarly journals Hereditary Ataxia, Spastic Paraparesis and Neuropathy in the French-Canadian Population

2006 ◽  
Vol 33 (2) ◽  
pp. 149-157 ◽  
Author(s):  
Nicolas Dupré ◽  
Jean-Pierre Bouchard ◽  
Bernard Brais ◽  
Guy A. Rouleau
Keyword(s):  
Genetic Basis ◽  
Current Knowledge ◽  
Spastic Paraparesis ◽  
Gene Pools ◽  
French Canadian ◽  
Hereditary Ataxias ◽  
Canadian Population ◽  
Neurogenetic Disorders ◽  
Regional Gene

ABSTRACT:Historical events have shaped the various regional gene pools of the French-Canadian (FC) population, leading to increased prevalence of some rare diseases. The first studies of these founder effects were performed in large part by astute clinicians such as André Barbeau. In collaboration with others, he contributed greatly to the delineation of phenotypic subtypes of these conditions. As such, the following neurogenetic disorders were first identified in patients of FC origin: AOA2, ARSACS, HSAN2, RAB, and HMSN/ACC. We have summarized our current knowledge of the main hereditary ataxias, spastic parapareses and neuropathies that are particular to the FC population. The initial genetic characterization of the more common and homogeneous of these diseases has been largely completed. 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 recurrent mutation inDEPDC5predisposes to focal epilepsies in the French-Canadian population

2013 ◽  
Vol 86 (6) ◽  
pp. 570-574 ◽  
Author(s):  
C. Martin ◽  
C. Meloche ◽  
M.-F. Rioux ◽  
D.K. Nguyen ◽  
L. Carmant ◽  
...  
Keyword(s):  
Recurrent Mutation ◽  
French Canadian ◽  
Canadian Population

scholarly journals Supplementary data: Validation of the French-Canadian version of the Expanded Prostate Cancer Index Composite (EPIC) in a French- Canadian population

2017 ◽  
Vol 11 (12) ◽  
pp. E461-4
Author(s):  
Éric Vigneault ◽  
Josée Savard ◽  
Marie-Hélène Savard ◽  
Hans Ivers ◽  
Philippe Després ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Data Validation ◽  
Supplementary Data ◽  
French Canadian ◽  
Canadian Population

N/A

Early-onset emphysema in a large French-Canadian family: a genetic investigation

2019 ◽  
Vol 7 (5) ◽  
pp. 427-436 ◽  
Author(s):  
Yohan Bossé ◽  
Maxime Lamontagne ◽  
Nathalie Gaudreault ◽  
Christine Racine ◽  
Marie-Hélène Levesque ◽  
...  
Keyword(s):  
Early Onset ◽  
French Canadian ◽  
Genetic Investigation

scholarly journals Diversity of ARSACS Mutations in French-Canadians

2013 ◽  
Vol 40 (1) ◽  
pp. 61-66 ◽  
Author(s):  
I. Thiffault ◽  
M.J. Dicaire ◽  
M. Tetreault ◽  
K.N. Huang ◽  
J. Demers-Lamarche ◽  
...  
Keyword(s):  
Low Cost ◽  
Phenotypic Variability ◽  
Mutation Screening ◽  
Gene Mutations ◽  
Genotypic Diversity ◽  
Loss Of Function ◽  
French Canadian ◽  
Spastic Ataxia ◽  
Large Gene ◽  
Canadian Population

Abstract:Background:The growing number of spastic ataxia of Charlevoix-Saguenay (SACS) gene mutations reported worldwide has broadened the clinical phenotype of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). The identification of Quebec ARSACS cases without two knownSACSmutation led to the development of a multi-modal genomic strategy to uncover mutations in this large gene and explore phenotype variability.Methods:Search forSACSmutations by combining various methods on 20 cases with a classical French-Canadian ARSACS phenotype without two mutations and a group of 104 sporadic or recessive spastic ataxia cases of unknown cause. Western blot on lymphoblast protein from cases with different genotypes was probed to establish if they still expressed sacsin.Results:A total of 12 mutations, including 7 novels, were uncovered in Quebec ARSACS cases. The screening of 104 spastic ataxia cases of unknown cause for 98SACSmutations did not uncover carriers of two mutations. Compounds heterozygotes for one missenseSACSmutation were found to minimally express sacsin.Conclusions:The large number ofSACSmutations present even in Quebec suggests that the size of the gene alone may explain the great genotypic diversity. This study does not support an expanding ARSACS phenotype in the French-Canadian population. Most mutations lead to loss of function, though phenotypic variability in other populations may reflect partial loss of function with preservation of some sacsin expression. Our results also highlight the challenge ofSACSmutation screening and the necessity to develop new generation sequencing methods to ensure low cost complete gene sequencing.

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