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Mov Disord. 2005 Mar;20(3):380-2.

Sacsin-related autosomal recessive ataxia without prominent retinal myelinated fibers in Japan.

Author information

1
Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan.

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.

PMID:
15486997
DOI:
10.1002/mds.20315
[Indexed for MEDLINE]

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