Sacsin-Related Autosomal Recessive Ataxia Without Prominent Retinal Myelinated Fibers In Japan
MOVEMENT DISORDERS(2005)
摘要
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) has been described in the Quebec region and in Tunisia. We report on two Japanese siblings with a new homozygous mutation (6543 del A) of the SACS gene. Compared with previously reported ARSACS patients, both of these patients had a unique phenotype characterized by dementia, ophthalmoplegia, and the absence of prominent retinal myelinated fibers. (c) 2004 Movement Disorder Society.
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关键词
ARSACS,sacsin,prominent retinal myelinated fiber
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