[Genotype and phenotype analyses of three families with autosomal recessive juvenile parkinsonism].
OBJECTIVE
To investigate the gene mutations and the clinical features of Chinese patients with autosomal recessive juvenile parkinsonism(AR-JP).


METHODS
the 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.


RESULTS
Three 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.


CONCLUSIONS
There 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.
Guo
Ji-feng
JF
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R.China.
Tang
Bei-sha
BS
Zhang
Yu-hu
YH
Liu
Hong-jian
HJ
Yan
Xin-xiang
XX
Chen
Tao
T
Shen
Lu
L
Jiang
Hong
H
Xia
Kun
K
Cai
Fang
F
Pan
Qian
Q
D000328:Adult; D005192:Family Health; D005260:Female; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D020734:Parkinsonian Disorders / Q000235:genetics*; D010641:Phenotype; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
D044767:Ubiquitin-Protein Ligases; C111567:parkin protein