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

• Authors: Kenju Hara, Osamu Onodera, Minoru Endo, Hiroshi Kondo, Hiroshi Shiota, Kenji Miki, Naoyuki Tanimoto, Tetsuya Kimura, Masatoyo Nishizawa
• Journal: Movement disorders : official journal of the Movement Disorder Society (Mov Disord) Vol. 20 Issue 3 Pg. 380-2 (Mar 2005) ISSN: 0885-3185 [Print] United States
• PMID: 15486997 (Publication Type: Case Reports, Journal Article)
• Copyright: 2004 Movement Disorder Society.

Chemical References

• Codon
• Heat-Shock Proteins
• SACS protein, human

Topics

• Ataxia (genetics, metabolism)
• Atrophy (pathology)
• Brain (pathology)
• Chromosome Disorders (genetics, metabolism)
• Codon (genetics)
• DNA Mutational Analysis
• Female
• Heat-Shock Proteins (genetics, metabolism)
• Humans
• Japan
• Magnetic Resonance Imaging
• Male
• Middle Aged
• Nerve Fibers, Myelinated (pathology)
• Point Mutation (genetics)
• Retina (pathology)