Spinocerebellar ataxia type 12 was not found in Korean Parkinsonian patients

Jin Whan Cho; Sung Yeon Kim; Sung Sup Park; Beom S Jeon

doi:10.1017/s0317167100009161

Spinocerebellar ataxia type 12 was not found in Korean Parkinsonian patients

Can J Neurol Sci. 2008 Sep;35(4):488-90. doi: 10.1017/s0317167100009161.

Authors

Jin Whan Cho¹, Sung Yeon Kim, Sung Sup Park, Beom S Jeon

Affiliation

¹ Department of Neurology, College of Medicine, Seoul National University, Seoul, South Korea.

PMID: 18973067
DOI: 10.1017/s0317167100009161

Abstract

Background: Parkinsonism (PD) is occasionally seen in several types of spinocerebellar ataxia (SCA). Mutations in SCA gene have been reported in the patients of parkinsonism without ataxia.

Methods: We examined spinocerebellar ataxia type 12 mutation in 877 PD and 199 multiple system atrophy (MSA) patients.

Results and conclusions: No patients showed abnormal SCA12 expansion. It suggests that PD and MSA are not associated with SCA12 and it is not necessary to screen SCA12 in PD and MSA patients.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Aged
Aged, 80 and over
Child
DNA Mutational Analysis
Female
Humans
Korea
Male
Middle Aged
Multiple System Atrophy / etiology
Multiple System Atrophy / genetics
Mutation
Nerve Tissue Proteins / genetics*
Parkinson Disease / etiology
Parkinson Disease / genetics*
Protein Phosphatase 2 / genetics*
Spinocerebellar Ataxias / complications*
Spinocerebellar Ataxias / diagnosis
Spinocerebellar Ataxias / genetics*

Substances

Nerve Tissue Proteins
PPP2R2B protein, human
Protein Phosphatase 2