Genetic and clinical analysis in a Parkinson's disease family caused by expansion of SCA2.
- Author:
Ying ZHANG
1
;
Xingjiao LU
;
Zhidong CEN
;
Jin CAO
;
Zhiyuan OUYANG
;
Bo WANG
;
Wei LUO
Author Information
- Publication Type:Journal Article
- MeSH: Aged; Ataxin-2; genetics; Base Sequence; Family Health; Female; Genetic Predisposition to Disease; genetics; Humans; Male; Middle Aged; Parkinson Disease; genetics; pathology; Pedigree; Polymerase Chain Reaction; Sequence Analysis, DNA; methods; Trinucleotide Repeat Expansion; genetics
- From: Chinese Journal of Medical Genetics 2015;32(6):776-779
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze the clinical and genetic features of a family with Parkinson's disease caused by expansion of CAG triplet repeat in the ATXN2 gene.
METHODSThe CAG/CAA repeat in the ATXN2 gene was analyzed by polymerase chain reaction (PCR) and Sanger sequencing.
RESULTSMolecular testing has documented a pathological heterozygous expansion of the CAG repeat from 33 to 35 in 6 patients and other 8 family members. Two patients had pure CAG triplet repeat expansion in their ATXN2 gene, while others had CAA interruption.
CONCLUSIONExpanded CAG/CAA repeat in the ATXN2 gene is the causative mutation of the disease in this family.The 8 members with expanded CAG/CAA repeat may be asymptomatic patients. It is supposed that the number and configuration of the ATXN2 CAG/CAA repeat expansion may play an important role in the phenotypic variability of Parkinson's disease.
