Journal
ANNALS OF NEUROLOGY
Volume 57, Issue 5, Pages 762-765Publisher
WILEY-LISS
DOI: 10.1002/ana.20456
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Funding
- NIA NIH HHS [AG022579] Funding Source: Medline
- NINDS NIH HHS [P01 NS400256] Funding Source: Medline
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Several pathogenic mutations in the leucine-rich repeat kinase 2 (LRRK2; PARK8) gene recently have been identified in familial and sporadic parkinsonism. We screened 435 Norwegian patients diagnosed with Parkinson's disease and 519 control subjects for the presence of 7 LRRK2 mutations. Nine patients from seven families were found to be heterozygote carriers of the LRRK2 6055G&RANGBRAC; A (G2019S) mutation. Twelve of 28 first-degree relatives also carried the mutation, but only 1 had Parkinson's disease. The clinical features included asymmetric resting tremor, bradykinesia, and rigidity with a good response to levodopa and could not be distinguished from idiopathic Parkinson's disease.
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