Novel compound heterozygous mutations in sacsin-related ataxia

Yoichi Yamamoto, Kotaro Hiraoka, Mutsuko Araki, Seiichi Nagano, Haruo Shimazaki, Yoshihisa Takiyama, Sabro Sakoda

Research output: Contribution to journalArticlepeer-review

14 Citations (Scopus)

Abstract

High prevalence of a form of autosomal recessive spastic ataxia with early onset was originally described among French Canadians in the Charlevoix-Saguenay region, in northeastern Quebec. Since the responsible gene (SACS) was identified, mutations in the SACS gene have been described in Tunisia, Italy, Turkey, and Japan. The mutation sites found outside Quebec are different from the ones in Quebec. All patients outside Quebec, except one Italian patient, have been reported to have homozygous mutations. The authors report here identical twin sisters with novel compound heterozygous mutations (c.[2951_2952delAG]+[3922delT]) in the SACS gene.

Original languageEnglish
Pages (from-to)101-104
Number of pages4
JournalJournal of the neurological sciences
Volume239
Issue number1
DOIs
Publication statusPublished - 2005 Dec 15
Externally publishedYes

Keywords

  • Autosomal recessive
  • Compound heterozygotes
  • Deletion
  • Sacsin
  • Spastic ataxia

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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