Parkinsonism & related disorders, 2002-12, Vol.9 (2), p.121-123
2002
Volltextzugriff (PDF)
Details
- Autor(en) / Beteiligte
- Titel
- A family with a tau P301L mutation presenting with parkinsonism
- Ist Teil von
- Parkinsonism & related disorders, 2002-12, Vol.9 (2), p.121-123
- Ort / Verlag
- England: Elsevier Ltd
- Erscheinungsjahr
- 2002
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- We report a sib-pair with a tau P301L mutation. Unlike most previous cases with this mutation, parkinsonism, rather than dementing features were the predominant and presenting feature. We have also observed that the P301L mutation has occurred on the H1 tau haplotype background. The haplotype background may influence the disease phenotype since in many previous Caucasian families with the P301L mutation, the haplotype background has been H2.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1353-8020eISSN: 1873-5126DOI: 10.1016/S1353-8020(02)00003-2Titel-ID: cdi_proquest_miscellaneous_72755912
- Format
- –
- Schlagworte
- Dementia, Diagnosis, Differential, Female, Genetics, Haplotypes - genetics, Humans, Male, Middle Aged, Mutation, Parkinsonian Disorders - diagnosis, Parkinsonian Disorders - genetics, Parkinsonian Disorders - physiopathology, Parkinsonism, Pedigree, Progressive supranuclear palsy, Tau, tau Proteins - genetics