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1: Ann Neurol. 2005 May;57(5):762-5.Click here to read Links

Clinical features of LRRK2-associated Parkinson's disease in central Norway.

Aasly JO, Toft M, Fernandez-Mata I, Kachergus J, Hulihan M, White LR, Farrer M.

Department of Neurology, St. Olav's Hospital, Trondheim, Norway. jan.aasly@medisin.ntnu.no

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>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.

PMID: 15852371 [PubMed - indexed for MEDLINE]