Sacsin-related ataxia with neither retinal hypermyelination nor spasticity [1]

Movement Disorders

Volumn 22, Issue 9, 2007, Pages 1362-1363

  Hara, Kenju ^a   Shimbo, Junsuke ^a   Nozaki, Hiroaki ^a   Kikugawa, Koki ^b   Onodera, Osamu ^a   Nishizawa, Masatoyo ^a  

^a NIIGATA UNIVERSITY   (Japan)

^b Tsubame Rosai Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ADULT; ANAMNESIS; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX SAGUENAY; BRAIN ATROPHY; CASE REPORT; CLINICAL FEATURE; DEGENERATIVE DISEASE; EXON; FEMALE; GAIT DISORDER; GENE MUTATION; HUMAN; LETTER; MALE; MISSENSE MUTATION; MUSCLE ACTION POTENTIAL; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; RETINA; SEQUENCE ANALYSIS; SPASTICITY;

ATAXIA; HEAT-SHOCK PROTEINS; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUSCLE SPASTICITY; NERVE FIBERS, MYELINATED; RETINA;

EID: 34548229949     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.21557     Document Type: Letter

References (5)

1. Bouchard JP, Richter A, Mathieu J, et al. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Neuromuscul Disord 1998; 8:474-479.
2. Gomez GM. ARSACS goes global. Neurology 2004;62: 10-11.
3. Engert JC, Berube P, Mercier J, et al. ARSACS, a spastic ataxia common in northern Quebec, is caused by mutations in a new gene encoding an 11.5-kb ORF. Nat Genet 2000;24:120-125.
4. Shimazaki H, Takiyama Y, Sakoe K, et al. A phenotype without spasticity in sacsin-related ataxia. Neurology 2005;64:2129-2131.
5. Ouyang Y, Takiyama Y, Sakoe K, et al. Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon. Neurology 2006;66:1103-1104.