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- W2373352705 abstract "Objective To investigate the mutation of parkin,PINK1 and DJ-1 gene in Chinese patients with autosomal recessive early-onset parkinsonism (AREP). Methods Parkin,PINK1 and DJ-1 gene mutations were detected using polymerase chain reaction, DNA sequence analyses, and restriction enzyme digestion analysis in 15 AREP families. Results Three heterozygous parkin mutations (202-203delAG in exon 2, 968-973delGTGTCC in exon 9,T1422C in exon 12) were detected in three families. Two of the mutations (968-973delGTGTCC and T1422C) were not reported previously. Two novel point mutations (C938T in exon 4 and C1474T in exon 7) were found in PINK1 gene in two other families. There were no mutations in DJ-1 gene in these families. In the three PARK2 families, mean age at onset was 25.2±5.7 years. The clinical features of dystonia, postural instability, hyperreflexia, diurnal fluctuations with sleep benefit, good response to levodopa and L-dopa-induced dyskinesia were noted. In the two PARK6 families, mean age at onset was 25.8±10.0 years; their clinical features were similar to those of PARK2, but without dystonia, postural instability and L-dopa-induced dyskinesia. Conclusion Parkin and PINK1 gene mutations should be a common cause in Chinese patients with AREP. DJ-1 gene mutations are rare. PARK2 and PARK6 should have the similar clinical features, but all have clinical heterogeneity." @default.
- W2373352705 created "2016-06-24" @default.
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- W2373352705 date "2005-01-01" @default.
- W2373352705 modified "2023-09-25" @default.
- W2373352705 title "Mutation analysis of genes associated with autosomal recessive in early-onset parkinsonism" @default.
- W2373352705 hasPublicationYear "2005" @default.
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