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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases
European Journal of Human Genetics, Volume 24, No. 7, Year 2016
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Description
Hereditary cerebellar ataxias and hereditary spastic paraplegias are clinically and genetically heterogeneous and often overlapping neurological disorders. Mutations in SPG7 cause the autosomal recessive spastic paraplegia type 7 (SPG7), but recent studies indicate that they are also one of the most common causes of recessive cerebellar ataxia. In Quebec, a significant number of patients affected with cerebellar ataxia and spasticity remain without a molecular diagnosis. We performed wholeexome sequencing in three French Canadian (FC) patients affected with spastic ataxia and uncovered compound heterozygous variants in SPG7 in all three. Sanger sequencing of SPG7 exons and exon/intron boundaries was used to screen additional patients. In total, we identified recessive variants in SPG7 in 22 FC patients belonging to 12 families (38.7% of the families screened), including two novel variants. The p.(Ala510Val) variant was the most common in our cohort. Cerebellar features, including ataxia, were more pronounced than spasticity in this cohort. These results strongly suggest that variants affecting the function of SPG7 are the fourth most common form of recessive ataxia in FC patients. Thus, we propose that SPG7 mutations explain a significant proportion of FC spastic ataxia cases and that this gene should be considered in unresolved patients. © 2016 Macmillan Publishers Limited. All rights reserved.
Authors & Co-Authors
Tétreault, Martine
Canada, Montreal
Université Mcgill
La Piana, Roberta
Canada, Montreal
Université Mcgill
Bouchard, Jean Pierre
Canada, Quebec
Université Laval, Faculté de Médecine
Rouleau, Guy Armand
Canada, Montreal
Université Mcgill
Boycott, Kym M.
Canada, Ottawa
University of Ottawa
Majewski, Jacek
Canada, Montreal
Université Mcgill
Brais, Bernard
Canada, Montreal
Université Mcgill
Statistics
Citations: 43
Authors: 7
Affiliations: 5
Identifiers
Doi:
10.1038/ejhg.2015.240
ISSN:
10184813
Research Areas
Genetics And Genomics
Study Design
Cohort Study