2005年3月
Sacsin-related autosomal recessive ataxia without prominent retinal myelinated fibers in Japan
MOVEMENT DISORDERS
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- 巻
- 20
- 号
- 3
- 開始ページ
- 380
- 終了ページ
- 382
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1002/mds.20315
- 出版者・発行元
- WILEY-LISS
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.
- リンク情報
- ID情報
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- DOI : 10.1002/mds.20315
- ISSN : 0885-3185
- PubMed ID : 15486997
- Web of Science ID : WOS:000227912100018