[Mutation analysis of PINK1 gene in Chinese patients with autosomal recessive early-onset parkinsonism type 6].
OBJECTIVE
To detect PINK1 gene mutations and study the clinical features in Chinese patients with autosomal recessive early-onset parkinsonism (AREP) type 6.


METHODS
PINK1 gene mutations were detected using polymerase chain reaction (PCR), DNA sequence analysis, and restriction enzyme digestion analysis in 11 index probands of 11 AREP families.


RESULTS
Two novel point mutations in PINK1 gene, C938T in exon four, leading to substitution of a threonine for methionine codon at amino acid 313 (T313M) and C1474T in exon seven introducing a stop codon at amino acid 492 (R492Stop), were found in two families. In another family, a synonymous mutation (Y454Y) was detected. The clinical features in patients with PINK1 mutations included early onset, slow disease progression, hyperreflexia, diurnal fluctuations with sleep benefit, and good response to levodopa. However, dyskinesias related to levodopa treatment were absent.


CONCLUSIONS
PINK1 gene mutations are a common cause of AREP. PARK6 pedigrees have been firstly identified in Chinese Mainland. Clinical heterogeneity exists in PARK6.
Zhang
Yu-hu
YH
Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China.
Tang
Bei-sha
BS
Guo
Ji-feng
JF
Xia
Kun
K
Xu
Bo
B
Cai
Fang
F
Deng
Han-xiang
HX
Yan
Xin-xiang
XX
Chen
Tao
T
Cao
Li
L
Pan
Qian
Q
Long
Zhi-gao
ZG
D000293:Adolescent; D000328:Adult; D044466:Asian People; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020734:Parkinsonian Disorders / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D011494:Protein Kinases / Q000235:genetics*; D000099202:PTEN-Induced Putative Kinase
D011494:Protein Kinases; D000099202:PTEN-Induced Putative Kinase