The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease

被引：72

作者：

Albanese, A

Valente, EM

Romito, LM

Bellacchio, E

Elia, AE

Dallapiccola, B

机构：

[1] Ist Nazl Neurol Carlo Besta, I-20133 Milan, Italy

[2] Univ Cattolica Sacro Cuore, I-20123 Milan, Italy

[3] IRCCS CSS, Mendel Inst, Rome, Italy

[4] Univ Roma La Sapienza, Dept Expt Med & Pathol, Rome, Italy

来源：

NEUROLOGY | 2005年 / 64卷 / 11期

关键词：

D O I：

10.1212/01.WNL.0000163999.72864.FD

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Mutations in the PINK1 gene cause autosomal recessive parkinsonism characterized by early onset and a variable phenotypic presentation. A patient homozygous for the Ala168Pro mutation has been fully characterized clinically. Apart from onset at age 39 years and the excellent and sustained response to levodopa, all clinical and laboratory features, including SPECT and assessment of autonomic function, were indistinguishable from typical idiopathic Parkinson disease.

引用

页码：1958 / 1960

页数：3

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