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Clinical and genetic study of autosomal recessive cerebellar ataxia type 1.

Authors: Dupré, Nicolas  Gros-Louis, François  Chrestian, Nicolas  Verreault, Steve  Brunet, Denis  de Verteuil, Danielle  Brais, Bernard  Bouchard, Jean-Pierre  Rouleau, Guy A 
Citation: Dupré N, etal., Ann Neurol. 2007 Jul;62(1):93-8.
Pubmed: (View Article at PubMed) PMID:17503513
DOI: Full-text: DOI:10.1002/ana.21143

OBJECTIVE: 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).
METHODS: We ascertained 64 probands and affected members of 30 French-Canadian families all showing similar clinical features and originating from the same region of Quebec. After informed consent, we performed detailed clinical history, neurological examination, brain imaging, nerve conduction studies, and SYNE1 mutation detection of all available subjects.
RESULTS: Based on the cases examined, ARCA-1 is a cerebellar syndrome characterized by recessive transmission, middle-age onset (mean, 31.60; range, 17-46 years), slow progression and moderate disability, significant dysarthria, mild oculomotor abnormalities, occasional brisk reflexes in the lower extremities, normal nerve conduction studies, and diffuse cerebellar atrophy on imaging. We identified a total of seven mutations in our population, thereby providing evidence of genotypic heterogeneity. Patients with different mutations did not show significant phenotypic heterogeneity.
INTERPRETATION: We identified a cluster of French-Canadian families with a new recessive ataxia of relatively pure cerebellar type caused by mutations in SYNE1. The function of SYNE1 is thus critical in the maintenance of cerebellar structure in humans. We expect that this disease will be a common cause of middle-age-onset recessive ataxia worldwide.


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RGD Object Information
RGD ID: 13209009
Created: 2017-08-28
Species: All species
Last Modified: 2017-08-28
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.