Genetics and clinical study of Chinese kindreds with dentatorubral pallidoluysian atrophy.
- Author:
Xin ZHANG
1
;
Ying HAO
;
Wei-hong GU
;
Yuan-yuan CHEN
;
Jin ZHANG
;
Guo-xiang WANG
;
Kang WANG
;
Miao JIN
;
Xiao-hui DUAN
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Aged; Asian Continental Ancestry Group; Brain; pathology; Child; Child, Preschool; China; Female; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Mutation; Myoclonic Epilepsies, Progressive; diagnosis; genetics; Nerve Tissue Proteins; genetics; Pedigree; Phenotype; Trinucleotide Repeats; Young Adult
- From: Chinese Journal of Medical Genetics 2013;30(1):31-35
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate genetics and clinical characteristics of dentatorubral-pallidoluysian atrophy (DRPLA) in Chinese kindreds.
METHODSFragment analysis with laser-induced fluorescence in capillary electrophoresis was performed for the cytosine-adenine-guanine (CAG) repeats of DRPLA gene in 708 probands of autosomal dominant ataxia pedigrees and 119 sporadic ataxia cases.
RESULTSExpanded CAG repeats of DRPLA gene were detected in probands of three ataxia pedigrees, with the numbers of repeats being 16/58, 16/58 and 14/54, respectively. In addition to ataxia, patients with adult-onset disease also exhibited spasm and neck torsion.
CONCLUSIONOnly three cases of DRPLA have been identified among 827 cases, which suggested that DRPLA is a relatively rare subtype of SCA in Chinese population. Clinical variation among the patients suggested DRPLA has a wide spectrum of phenotype.
