Mutations in SyNE-1 lead to a newly discovered form of autosomal recessive cerebellar ataxia;Une nouvelle forme d'ataxie récessive causée par des mutations du gène SyNE-1

Medecine/Sciences

Volumn 23, Issue 3, 2007, Pages 261-262

  Dupré, Nicolas ^a,b   Bouchard, Jean Pierre ^a   Gros Louis, François ^b   Rouleau, Guy A ^b  

^a UNIVERSITÉ LAVAL   (Canada)

^b UNIVERSITÉ DE MONTRÉAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

AEROBIC RESPIRATION CONTROL PROTEIN A;

AUTOSOMAL RECESSIVE DISORDER; CANADA; CEREBELLAR ATAXIA; FRIEDREICH ATAXIA; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC DISORDER; HAPLOTYPE; HUMAN; NEUROMUSCULAR SYNAPSE; NEUROPATHY; NOTE; SYNAPSE; TELANGIECTASIA;

EID: 33947528278     PISSN: 07670974     EISSN: None     Source Type: Journal    
DOI: 10.1051/medsci/2007233261     Document Type: Note

References (8)

1. Dupré N, Bouchard JP, Verreault S, et al. Recessive ataxia of the Beauce, a new form of hereditary ataxia of pure cerebellar type. Neurology 2002 ; 58 :A35.
2. Dupré N, Gros-Louis F, Verreault S, et al. Recessive ataxia of the Beauce, a new form of hereditary ataxia, maps to chromosome 6. Neurology 2006 ; 66 : A274.
3. Dupré N, Bouchard JP, Brais B, Rouleau GA. Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population. Can J Neurol Sci 2006 ; 33 : 149-57.
4. Howard HC, Dupré N, Mathieu J, et al. Severe neuropathy with agenesis of the corpus callosum. Med Sci (Paris) 2003 ; 19 : 414-6.
5. Gros-Louis F, Dupré N, Dion P, et al. Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nat Genet 2007 ; 39 : 80-85
6. Grady RM, Starr DA, Ackerman GL, et al. Syne proteins anchor muscle nuclei at the neuromuscular junction. Proc Natl Acad Sci USA 2005 ; 102 : 4359-64.
7. Ikeda Y, Dick KA, Weatherspoon MR, et al. Spectrin mutations cause spinocerebellar ataxia type 5. Nat Genet 2006 ; 38 : 184-90.
8. Ishikawa K, Toru S, Tsunemi T, et al. An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5′ untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains. Am J Hum Genet 2005 ; 77 : 280-96.