A novel sacsin mutation in a Japanese woman showing clinical uniformity of autosomal recessive spastic ataxia of Charlevoix-Saguenay [7]

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 77, Issue 2, 2006, Pages 280-282

  Okawa, Satoshi ^a   Sugawara, M ^a   Watanabe, S ^a   Toyoshima, I ^a   Imota, T ^b  

^a AKITA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Akita City Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX SAGUENAY; CASE REPORT; CLINICAL FEATURE; CORRELATION ANALYSIS; ELECTROENCEPHALOGRAM; ELECTRONYSTAGMOGRAPHY; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GEOGRAPHIC DISTRIBUTION; HUMAN; LETTER; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; NYSTAGMUS; OPHTHALMOSCOPY; OPTOKINETIC NYSTAGMUS; PHENOTYPE; PRIORITY JOURNAL; SACSIN GENE; SPASTICITY;

ADULT; ATROPHY; CEREBELLAR ATAXIA; CEREBELLUM; CHROMOSOME ABERRATIONS; CODON, NONSENSE; FEMALE; GENES, RECESSIVE; HEAT-SHOCK PROTEINS; HUMANS; MUSCLE SPASTICITY;

EID: 32344441383     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.2005.077297     Document Type: Letter

References (5)

1. Bouchard JP, Barbeau A, Bouchard R, et al. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Can J Neurol Sci 1978;5:61-9.
2. Engert JC, Berube P, Mercier J, et al. ARSACS, a spastic ataxia common in northeastern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet 2000;24:120-5.
3. Gomez CM. ARSACS goes global. Neurology 2004;62:10-11.
4. Hara K, Onodera O, Endo M, et al. Sacsin-related autosomal recessive ataxia without prominent retinal myelinated fibers in Japan. Mov Disord 2005;20:380-2.
5. Shimazaki H, Takiyama Y, Sakoe K, et al. A phenotype without spasticity in sacsin-related ataxia. Neurology 2005;64:2129-31.