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

التفاصيل البيبلوغرافية
العنوان: Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease
المؤلفون: Jan O. Aasly, Mathias Toft, Sarah Lincoln, Stephanie A. Cobb, Amela Felic, Carles Vilariño-Güell, Linda R. White, Andrew B. West, Kristoffer Haugarvoll, Philip J. Webber, Justus C. Dachsel, John G. Nutt, Jennifer M. Kachergus, Krisztina K. Johansen, Owen A. Ross, Christian Wider, Alexandra I. Soto-Ortolaza, Haydeh Payami, Matthew J. Farrer
المصدر: Movement Disorders. 25:2156-2163
بيانات النشر: Wiley, 2010.
سنة النشر: 2010
مصطلحات موضوعية: Genetics, education.field_of_study, Parkinson's disease, medicine.diagnostic_test, Parkinsonism, Haplotype, Population, Biology, medicine.disease, LRRK2, nervous system diseases, Degenerative disease, Neurology, medicine, Neurology (clinical), Kinase activity, education, Genetic testing
الوصف: 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.
تدمد: 0885-3185
DOI: 10.1002/mds.23265
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1b594b45ea71e71452635c82f8f682e9
https://doi.org/10.1002/mds.23265
Rights: OPEN
رقم الانضمام: edsair.doi...........1b594b45ea71e71452635c82f8f682e9
قاعدة البيانات: OpenAIRE
الوصف
تدمد:08853185
DOI:10.1002/mds.23265