Sacsin-related autosomal recessive ataxia without prominent retinal myelinated fibers in Japan.
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.
Hara
Kenju
K
Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan.
Onodera
Osamu
O
Endo
Minoru
M
Kondo
Hiroshi
H
Shiota
Hiroshi
H
Miki
Kenji
K
Tanimoto
Naoyuki
N
Kimura
Tetsuya
T
Nishizawa
Masatoyo
M
D001259:Ataxia / Q000235:genetics* / Q000378:metabolism*; D001284:Atrophy / Q000473:pathology; D001921:Brain / Q000473:pathology; D025063:Chromosome Disorders / Q000235:genetics / Q000378:metabolism; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006360:Heat-Shock Proteins / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D007564:Japan; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009413:Nerve Fibers, Myelinated / Q000473:pathology*; D017354:Point Mutation / Q000235:genetics*; D012160:Retina / Q000473:pathology*
D003062:Codon; D006360:Heat-Shock Proteins; C404403:SACS protein, human