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Case Reports
. 2010 Apr;31(4):721-2.
doi: 10.1016/j.neurobiolaging.2008.05.030. Epub 2008 Jul 21.

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

Connie Marras  1 , Christine Klein, Anthony E Lang, Yosuke Wakutani, Danielle Moreno, Christine Sato, Edwin Yip, Renato P Munhoz, Katja Lohmann, Ana Djarmati, Andrew Bi, Ekaterina Rogaeva
Affiliations
Case Reports

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

Connie Marras et al. Neurobiol Aging. 2010 Apr.

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.

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