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

• Kenju Hara

• Osamu Onodera

• Minoru Endo

• Hiroshi Kondo

• Hiroshi Shiota

• Kenji Miki

• Naoyuki Tanimoto

• Tetsuya Kimura

• Masatoyo Nishizawa

抄録

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 Society

収録刊行物

• Movement Disorders

  Movement Disorders 20 (3), 380-382, 2005-03

  Wiley

キーワード

• Neurology (clinical)
• Neurology

詳細情報

• CRID: 1360011143812521728
• NII論文ID: 30012623196
• DOI: 10.1002/mds.20315
• ISSN: 15318257
• ISSN: 08853185
• Web Site: https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmds.20315
• Web Site: https://onlinelibrary.wiley.com/doi/full/10.1002/mds.20315
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