Does parkin play a role in the peripheral nervous system? A family report

被引:29
作者
Abbruzzese, G
Pigullo, S
Schenone, A
Bellone, E
Marchese, R
Di Maria, E
Benedetti, L
Ciotti, P
Nobbio, L
Bonifati, V
Ajmar, F
Mandich, P
机构
[1] Univ Genoa, Dept Neurosci Opthalmol & Genet, Med Genet Sect, I-16132 Genoa, Italy
[2] Erasmus Med Ctr, Dept Clin Genet, Rotterdam, Netherlands
[3] Univ Roma La Sapienza, Dept Neurol Sci, Rome, Italy
关键词
Parkinson's disease; parkin; peripheral neuropathy;
D O I
10.1002/mds.20113
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Two genes were identified for autosomal recessive forms of early onset Parkinson's disease: parkin and DJ-1. We describe 2 siblings with EOPD due to parkin mutations and peripheral neuropathy, which presented as neuropathy with liability to pressure palsies (HNPP) in the index case. RT-PCR experiments revealed that the parkin gene is expressed in sural nerves from both controls and patient with parkin-related disease. Our findings support the view that parkin may play a role in the peripheral nervous system. (C) 2004 Movement Disorder Society.
引用
收藏
页码:978 / 981
页数:4
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