The parkin gene and its phenotype

被引:30
作者
Bonifati, V
De Michele, G
Lücking, CB
Dürr, A
Fabrizio, E
Ambrosio, G
Vanacore, N
De Mari, M
Marconi, R
Capus, L
Breteler, MMB
Gasser, T
Oostra, B
Wood, N
Agid, Y
Filla, A
Meco, G
Brice, A
机构
[1] Univ La Sapienza, Dept Neurol Sci, I-00185 Rome, Italy
[2] Univ Naples Federico II, Dept Neurol Sci, Naples, Italy
[3] Hop La Pitie Salpetriere, INSERM, U289, Paris, France
[4] Univ Bari, Inst Neurol, I-70121 Bari, Italy
[5] Misericordia Hosp, Div Neurol, Grosseto, Italy
[6] Univ Trieste, Inst Neurol, I-34127 Trieste, Italy
[7] Erasmus Univ, Dept Epidemiol & Biostat, NL-3000 DR Rotterdam, Netherlands
[8] Univ Munich, Klinikum Grosshadern, Neurol Klin, D-8000 Munich, Germany
[9] Erasmus Univ, Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
[10] Inst Neurol, London WC1N 3BG, England
关键词
D O I
10.1007/s100720170042
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Mutations of the parkin gene on chromosome 6 cause autosomal recessive, early onset parkinsonism. This is the most frequent form of monogenic parkinsonism so far identified. The associated phenotypical spectrum encompasses early onset, levodopa-responsive parkinsonism (average onset in the early 30s in Europe), and it overlaps with dopa-responsive dystonia in cases with the earliest onset, and with clinically typical Parkinson's disease in cases with later onset. Despite clinical features, Lewy bodies are not found at autopsy in brains of patients with parkin mutations. The parkin protein possesses ubiquitin ligase activity, which is abolished by the pathogenic mutations.
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页码:51 / 52
页数:2
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