PT  - JOURNAL ARTICLE
AU  - Ogawa, T.
AU  - Takiyama, Y.
AU  - Sakoe, K.
AU  - Mori, K.
AU  - Namekawa, M.
AU  - Shimazaki, H.
AU  - Nakano, I.
AU  - Nishizawa, M.
TI  - Identification of a <em>SACS</em> gene missense mutation in ARSACS
AID  - 10.1212/01.WNL.0000099371.14478.73
DP  - 2004 Jan 13
TA  - Neurology
PG  - 107--109
VI  - 62
IP  - 1
4099  - http://n.neurology.org/content/62/1/107.short
4100  - http://n.neurology.org/content/62/1/107.full
SO  - Neurology2004 Jan 13; 62
AB  - The authors describe two patients in a Japanese family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. They presented early onset spastic ataxia, sensorimotor neuropathy, nystagmus, slurred speech, and hypermyelinated retinal nerve fibers. The authors identified a homozygous missense mutation (T7492C) in the SACS gene, which resulted in the substitution of arginine for tryptophan at amino acid residue 2498 (W2498R).