Genotype and phenotype analyses of three families with autosomal recessive juvenile parkinsonism.
- Author:
Ji-feng GUO
1
;
Bei-sha TANG
;
Yu-hu ZHANG
;
Hong-jian LIU
;
Xin-xiang YAN
;
Tao CHEN
;
Lu SHEN
;
Hong JIANG
;
Kun XIA
;
Fang CAI
;
Qian PAN
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Family Health; Female; Gene Deletion; Genotype; Humans; Male; Mutation; Parkinsonian Disorders; genetics; Phenotype; Ubiquitin-Protein Ligases; genetics
- From: Chinese Journal of Medical Genetics 2006;23(1):70-73
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the gene mutations and the clinical features of Chinese patients with autosomal recessive juvenile parkinsonism(AR-JP).
METHODSthe polymerase chain reaction (PCR), DNA sequence analysis, and restriction enzyme digestion analysis were applied to check parkin gene mutations of 15 index patients from 15 families with AR-JP.
RESULTSThree families were detected to have parkin mutations. Two of them had heterozygous deletion mutations (202-203 del AG in exon 2, 1069-1074 del GTGTCC in exon 9) and another of them carried a heterozygous missense mutation [1422(T-->C) in exon 12]. Two of the mutations [1069-1074delGTGTCC and 1422(T-->C)] were not reported previously. There were six patients in the three families. Mean age at onset was 25.2+/-5.7 years, ranging from 18 to 31 years. The symptoms were under slow progression, diurnal fluctuation with sleep benefit, and hyperreflexia were relatively prominent. Response to levodopa was satisfactory.
CONCLUSIONThere are parkin mutations happened in Chinese patients with AR-JP. Patients with parkin mutations have distinct clinical features besides the common clinical features of Parkinson's disease.
