期刊
NEUROLOGY
卷 65, 期 8, 页码 1319-1321出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/01.wnl.0000180517.70572.37
关键词
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A comprehensive sequence analysis of 29 exons that code for the functional domains of LRRK2 in 160 nondominant Parkinson disease (PD) patients was performed. Novel variant screening in a further 470 sporadic PD patients and 630 controls revealed two novel variants (R1067Q and IVS33 + 6 T > A), which are likely to be pathogenic in five patients. One patient presented initially with a typical essential tremor phenotype, expanding the phenotypic spectrum of LRRK2 mutations.
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