Abstract:
: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.
journal_name
Neurologyjournal_title
Neurologyauthors
Skipper L,Shen H,Chua E,Bonnard C,Kolatkar P,Tan LC,Jamora RD,Puvan K,Puong KY,Zhao Y,Pavanni R,Wong MC,Yuen Y,Farrer M,Liu JJ,Tan EKdoi
10.1212/01.wnl.0000180517.70572.37subject
Has Abstractpub_date
2005-10-25 00:00:00pages
1319-21issue
8eissn
0028-3878issn
1526-632Xpii
65/8/1319journal_volume
65pub_type
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