A phenotype without spasticity in sacsin-related ataxia.
The authors describe two Japanese siblings with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) without spasticity, usually a core feature of this disorder. They had a novel homozygous missense mutation (T987C) of the SACS gene, which resulted in a phenylalanine-to-serine substitution at amino acid residue 304.
Shimazaki
H
H
Department of Neurology, Jichi Medical School, Tochigi 329-0498, Japan.
Takiyama
Y
Y
Sakoe
K
K
Ando
Y
Y
Nakano
I
I
D000328:Adult; D000344:Afferent Pathways / Q000473:pathology / Q000503:physiopathology; D017668:Age of Onset; D019943:Amino Acid Substitution / Q000235:genetics; D001259:Ataxia / Q000235:genetics / Q000503:physiopathology*; D002526:Cerebellar Diseases / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D002531:Cerebellum / Q000473:pathology / Q000503:physiopathology; D025063:Chromosome Disorders / Q000235:genetics / Q000503:physiopathology*; D004252:DNA Mutational Analysis; D005808:Genes, Recessive / Q000235:genetics*; D005820:Genetic Testing; D006360:Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D009128:Muscle Spasticity / Q000235:genetics / Q000503:physiopathology; D020125:Mutation, Missense / Q000235:genetics*; D010525:Peripheral Nerves / Q000473:pathology / Q000503:physiopathology; D010641:Phenotype
D006360:Heat-Shock Proteins; C404403:SACS protein, human