Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease.

Details

Serval ID
serval:BIB_9AE448199786
Type
Article: article from journal or magazin.
Collection
Publications
Title
Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease.
Journal
Movement Disorders
Author(s)
Aasly J.O., Vilariño-Güell C., Dachsel J.C., Webber P.J., West A.B., Haugarvoll K., Johansen K.K., Toft M., Nutt J.G., Payami H., Kachergus J.M., Lincoln S.J., Felic A., Wider C., Soto-Ortolaza A.I., Cobb S.A., White L.R., Ross O.A., Farrer M.J.
ISSN
1531-8257[electronic], 0885-3185[linking]
Publication state
Published
Issued date
2010
Volume
25
Number
13
Pages
2156-2163
Language
english
Notes
Publication types: Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Abstract
Genealogical investigation of a large Norwegian family (F04) with autosomal dominant parkinsonism has identified 18 affected family members over four generations. Genetic studies have revealed a novel pathogenic LRRK2 mutation c.4309 A>C (p.Asn1437His) that co-segregates with disease manifestation (LOD = 3.15, θ = 0). Affected carriers have an early age at onset (48 ± 7.7 SD years) and are clinically asymmetric and levodopa responsive. The variant was absent in 623 Norwegian control subjects. Further screening of patients from the same population identified one additional affected carrier (1 of 692) with familial parkinsonism who shares the same haplotype. The mutation is located within the Roc domain of the protein and enhances GTP-binding and kinase activity, further implicating these activities as the mechanisms that underlie LRRK2-linked parkinsonism.
Pubmed
Create date
24/09/2010 18:52
Last modification date
20/08/2019 16:02
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