Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy
Annals of Neurology, Volume 57, No. 3, Year 2005
Notification
URL copied to clipboard!
Description
Senataxin recently was identified as the mutated gene in ataxia-oculomotor apraxia 2, which is characterized by ataxia, oculomotor apraxia, and increased α-fetoprotein levels. In this study, we evaluated 24 atoxic patients from 10 French-Canadian families. All cases have a homogeneous phenotype consisting of a progressive ataxia appearing between 2 and 20 (mean age, 14.8) years of age with associated dysarthria, saccadic ocular pursuit, distal amyotrophy, sensory and motor neuropathy, and increased α-fetoprotein levels but absence of oculomotor apraxia. Linkage disequilibrium was observed with markers in the ataxia-oculomotor apraxia 2 locus on chromosome 9q34. We have identified four mutations in senataxin in the French-Canadian population including two novel missense mutations: the 5927T→G mutation changes the leucine encoded by codon 1976 to an arginine in the helicase domain (L1976R), and the 193G→A mutation changes a glutamic acid encoded by codon 65 into a lysine in the N-terminal domain of the protein (E65K). The common L1976R mutation is shared by 17 of 20 (85%) carrier chromosomes. The study of this large French-Canadian cohort better defines the phenotype of this ataxia and presents two novel mutations in senataxin including the more common founder mutation in the French-Canadian population. © 2005 American Neurological Association.
Authors & Co-Authors
St.-Denis, Anik
Canada, Montreal
Centre Hospitalier de L'universite de Montreal
Labuda, Damian
Canada, Montreal
Chu Sainte-justine - le Centre Hospitalier Universitaire Mère-enfant
Bouchard, Jean Pierre
Canada, Quebec
Université Laval
Brais, Bernard
Canada, Montreal
Centre Hospitalier de L'universite de Montreal
Statistics
Citations: 97
Authors: 4
Affiliations: 3
Identifiers
Doi:
10.1002/ana.20408
ISSN:
03645134
Research Areas
Cancer
Genetics And Genomics
Study Design
Cross Sectional Study
Cohort Study