Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism
Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism
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DOI：
10.1212/01.wnl.0000164009.36740.4e
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发表时间：
2005-06-14
期刊：
影响因子：
9.9
通讯作者：
Hattori, N
中科院分区：
文献类型：
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作者：
Li, Y;Tomiyama, H;Hattori, N
作者对51个常染色体隐性遗传性帕金森病(ARPD)家系进行了PINK1突变分析。他们发现了两个新的PINK1突变：一个是纯合子缺失(13516-18118del)，另一个是纯合子错义突变(C388R)。在临床上，缺失的患者会出现痴呆。因此，早发性帕金森病合并痴呆可被认为是PINK1相关的帕金森病。此外，在Parkin和DJ-1阴性的ARPD家族中，PINK1突变的患者占8.9%。
The authors performed PINK1 mutation analysis of 51 families with autosomal recessive Parkinson disease (ARPD). They found two novel PINK1 mutations: one was a homozygous deletion (13516-18118del) and the other a homozygous missense mutation (C388R). Clinically, the patients with the deletion had dementia. Thus, early-onset PD with dementia may be considered PINK1-linked parkinsonism. Furthermore, patients with PINK1 mutations form 8.9% of parkin- and DJ-1-negative ARPD families.