The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease
The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease
复制标题
DOI：
10.1212/01.wnl.0000163999.72864.fd
复制
发表时间：
2005-06-14
期刊：
影响因子：
9.9
通讯作者：
Dallapiccola, B
中科院分区：
文献类型：
--
作者：
Albanese, A;Valente, EM;Dallapiccola, B
PINK1基因突变导致常染色体隐性帕金森综合征，其特征为早发和可变表型表现。1例Ala168Pro突变纯合子患者已在临床上得到充分表征。除了在39岁时发病和对左旋多巴的良好和持续反应外，所有临床和实验室特征，包括SPECT和自主神经功能评估，与典型的特发性帕金森病没有区别。
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.