New mutation in the non-gigantic exon of SACS in Japanese siblings [3]

Movement Disorders

Volumn 22, Issue 5, 2007, Pages 748-749

  Takado, Yuhei ^a   Hara, Kenju ^a   Shimohata, Takayoshi ^a   Tokiguchi, Susumu ^b   Onodera, Osamu ^a   Nishizawa, Masatoyo ^a  

^a NIIGATA UNIVERSITY   (Japan)

^b Department of Neurology   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANAMNESIS; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CEREBELLUM ATROPHY; CLINICAL FEATURE; DISEASE COURSE; EXON; FEMALE; HUMAN; JAPANESE; LETTER; MALE; MENTAL DEFICIENCY; MINI MENTAL STATE EXAMINATION; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE REFLEX; MUSCLE WEAKNESS; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SENSORY DYSFUNCTION; SIBLING; SPASTICITY;

ADULT; AMINO ACID SUBSTITUTION; ATROPHY; CEREBELLUM; CHROMOSOME ABERRATIONS; CONSANGUINITY; EXONS; FEMALE; GAIT ATAXIA; GENES, RECESSIVE; HEAT-SHOCK PROTEINS; HOMOZYGOTE; HUMANS; LEUCINE; MALE; MIDDLE AGED; MUTATION; PHENYLALANINE; SEQUENCE ANALYSIS, DNA; SIBLINGS;

EID: 34249106696     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.21365     Document Type: Letter

References (5)

1. Bouchard JP, Barbeau A, Bouchard R, et al. Autosomal recessive spastic ataxia of Charlvoix-Saguenay. Can J Neurol Sci 1978;5:61-69.
2. 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.
3. Gomez GM. ARSACS goes global. Neurology 2004;62:10-11.
4. 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.
5. Hara K, Onodera O, Endo M, et al. Sacsin-related autosomal recessive ataxia without prominent retinal myelinated fibers in Japan. Mov Disord 2005;64:2129-2131.