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

Détails

ID Serval
serval:BIB_9AE448199786
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease.
Périodique
Movement Disorders
Auteur⸱e⸱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]
Statut éditorial
Publié
Date de publication
2010
Volume
25
Numéro
13
Pages
2156-2163
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Résumé
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
Création de la notice
24/09/2010 18:52
Dernière modification de la notice
20/08/2019 16:02
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