Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon.
The authors describe a Japanese autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) patient with a compound heterozygous mutation (32627-32636delACACTGTTAC and 31760delT) in a new exon of the SACS gene. The new exons upstream of the gigantic one should be analyzed when a case is clinically compatible with ARSACS, even without any mutation in the gigantic exon.
Ouyang
Y
Y
Department of Neurology, Jichi Medical School, Tochigi 329-0498, Japan.
Takiyama
Y
Y
Sakoe
K
K
Shimazaki
H
H
Ogawa
T
T
Nagano
S
S
Yamamoto
Y
Y
Nakano
I
I
D000328:Adult; D017668:Age of Onset; D001259:Ataxia / Q000235:genetics*; D004247:DNA / Q000097:blood / Q000235:genetics / Q000302:isolation & purification; D004401:Dysarthria / Q000235:genetics; D005091:Exons; D005260:Female; D005838:Genotype; D006360:Heat-Shock Proteins / Q000235:genetics*; D006801:Humans
D006360:Heat-Shock Proteins; C404403:SACS protein, human; D004247:DNA