Clinical features of  LRRK2 ‐associated Parkinson's disease in central Norway | Zendy

Aasly Jan O. | Zendy; Toft Mathias | Zendy; FernandezMata Ignacio | Zendy; Kachergus Jennifer | Zendy; Hulihan Mary | Zendy; White Linda R. | Zendy; Farrer Matthew | Zendy

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

Author(s) -

Aasly Jan O.,

Toft Mathias,

FernandezMata Ignacio,

Kachergus Jennifer,

Hulihan Mary,

White Linda R.,

Farrer Matthew

Publication year - 2005

Publication title -

annals of neurology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 4.764

H-Index - 296

eISSN - 1531-8249

pISSN - 0364-5134

DOI - 10.1002/ana.20456

Subject(s) - lrrk2 , parkinsonism , parkinson's disease , disease , levodopa , medicine , norwegian , degenerative disease , heterozygote advantage , resting tremor , genetics , allele , gene , biology , linguistics , philosophy

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. Ann Neurol 2005;57:762–765

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