RT Journal Article
SR Electronic
T1 Identification of a <em>SACS</em> gene missense mutation in ARSACS
JF Neurology
JO Neurology
FD Lippincott Williams &amp; Wilkins
SP 107
OP 109
DO 10.1212/01.WNL.0000099371.14478.73
VO 62
IS 1
A1 Ogawa, T.
A1 Takiyama, Y.
A1 Sakoe, K.
A1 Mori, K.
A1 Namekawa, M.
A1 Shimazaki, H.
A1 Nakano, I.
A1 Nishizawa, M.
YR 2004
UL http://n.neurology.org/content/62/1/107.abstract
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).