Sacsin‐related autosomal recessive ataxia without prominent retinal myelinated fibers in Japan
- 9 March 2005
- journal article
- case report
- Published by Wiley in Movement Disorders
- Vol. 20 (3) , 380-382
- https://doi.org/10.1002/mds.20315
Abstract
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. © 2004 Movement Disorder SocietyKeywords
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