title: Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon.
abstract: 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.
authors.affiliation: Department of Neurology, Jichi Medical School, Tochigi 329-0498, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Ouyang
authors.forename: Y
authors.initials: Y
authors.lastname: Takiyama
authors.forename: K
authors.initials: K
authors.lastname: Sakoe
authors.forename: H
authors.initials: H
authors.lastname: Shimazaki
authors.forename: T
authors.initials: T
authors.lastname: Ogawa
authors.forename: S
authors.initials: S
authors.lastname: Nagano
authors.forename: Y
authors.initials: Y
authors.lastname: Yamamoto
authors.forename: I
authors.initials: I
authors.lastname: Nakano
mesh_terms: 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
chemical_list: D006360:Heat-Shock Proteins; C404403:SACS protein, human; D004247:DNA