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LRRK2 and Parkin mutations in a family with parkinsonism-Lack of genotype-phenotype correlation.

Abstract：

:Here we report the relationship between age at onset, clinical course and genotype in a family with combined LRRK2 G2019S and Parkin exon 2 deletions. In the combined mutation carriers the age at onset and clinical course was highly variable and not always younger than in the carriers of LRRK2 G2019S mutations alone.

journal_name

Neurobiol Aging

journal_title

Neurobiology of aging

authors

Marras C,Klein C,Lang AE,Wakutani Y,Moreno D,Sato C,Yip E,Munhoz RP,Lohmann K,Djarmati A,Bi A,Rogaeva E

doi

10.1016/j.neurobiolaging.2008.05.030

subject

Has Abstract

pub_date

2010-04-01 00:00:00

pages

721-2

issue

4

eissn

0197-4580

issn

1558-1497

pii

S0197-4580(08)00185-1

journal_volume

31

pub_type

杂志文章

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