Novel compound heterozygous mutations of the SACS gene in autosomal recessive spastic ataxia of Charlevoix-Saguenay

Clin Neurol Neurosurg. 2012 Jul;114(6):746-7. doi: 10.1016/j.clineuro.2011.12.019. Epub 2011 Dec 30.

Authors

Rie Haga¹, Yasuo Miki, Yukihisa Funamizu, Tomoya Kon, Chieko Suzuki, Tatsuya Ueno, Haruo Nishijima, Akira Arai, Masahiko Tomiyama, Haruo Shimazaki, Yoshihisa Takiyama, Masayuki Baba

Affiliation

¹ Department of Neurology, Aomori Central Prefectural Hospital, Higashitsukurimichi, Aomori 030-8553, Japan. rie haga@med.pref.aomori.jp

PMID: 22209141
DOI: 10.1016/j.clineuro.2011.12.019

No abstract available

Publication types

Case Reports

MeSH terms

Codon, Nonsense / genetics
Codon, Nonsense / physiology
Exons / genetics
Heat-Shock Proteins / genetics*
Heterozygote
Humans
Male
Middle Aged
Muscle Spasticity / genetics*
Mutation / genetics
Neurologic Examination
Spinocerebellar Ataxias / congenital*
Spinocerebellar Ataxias / genetics

Substances

Codon, Nonsense
Heat-Shock Proteins
SACS protein, human

Supplementary concepts

Spastic ataxia Charlevoix-Saguenay type