Ogawa T, Takiyama Y, Sakoe K, Mori K, Namekawa M, Shimazaki H, Nakano I, Nishizawa M
Department of Neurology, Jichi Medical School, Tochigi, Japan.
Neurology. 2004 Jan 13;62(1):107-9. doi: 10.1212/01.wnl.0000099371.14478.73.
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).
作者描述了一个日本家庭中的两名患有常染色体隐性遗传的沙勒沃伊-萨格奈痉挛性共济失调的患者。他们表现出早发性痉挛性共济失调、感觉运动性神经病变、眼球震颤、言语不清和视网膜神经纤维髓鞘过度形成。作者在SACS基因中鉴定出一个纯合错义突变（T7492C），该突变导致2498位氨基酸残基处的色氨酸被精氨酸替代（W2498R）。
