Por favor, use este identificador para citar o enlazar a este item:
http://hdl.handle.net/10261/252212
COMPARTIR / EXPORTAR:
SHARE CORE BASE | |
Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL | DATACITE | |
Título: | Progressive supranuclear palsy and tau hyperphosphorylation in a patient with a C212Y parkin mutation |
Autor: | Sánchez, Marina P.; Gonzalo, Isabel; Ávila, Jesús CSIC ORCID ; García de Yébenes, Justo | Fecha de publicación: | 2002 | Editor: | IOS Press | Citación: | Journal of Alzheimer's Disease 4(5): 399-404 (2002) | Resumen: | Autosomal recessive-juvenile parkinsonism (AR-JP) is one of the most common forms of familial Parkinson's disease (PD) and is related to mutations in the Park-2 gene, encoding for a protein ligase of ubiquitin, parkin. Different mutations located along the parkin gene have been observed in different AR-JP affected families, possibly interfering with the normal function of parkin and the proteasome system. Two cases of patients with AR-JP have been recently described presenting different homo- and heterozygous parkin mutations and limited tau pathology. We report here the case of a patient with clinical and pathological findings compatible with progressive supranuclear palsy (PSP), carrier of a single, heterozygous mutation of the parkin gene, and homozygous for the H1/H1 haplotype in the tau gene. Abnormal tau hyperphosphorylation has been observed in our patient brain samples, suggesting that a partial deficit of parkin, a protein with ubiquitin-ligase function, may trigger tau pathology in individuals with molecular genetic risk factors. | Versión del editor: | https://doi.org/10.3233/JAD-2002-4506 | URI: | http://hdl.handle.net/10261/252212 | DOI: | 10.3233/JAD-2002-4506 | ISSN: | 1387-2877 |
Aparece en las colecciones: | (CBM) Artículos |
Ficheros en este ítem:
Fichero | Descripción | Tamaño | Formato | |
---|---|---|---|---|
accesoRestringido.pdf | 59,24 kB | Adobe PDF | Visualizar/Abrir |
CORE Recommender
SCOPUSTM
Citations
35
checked on 04-abr-2024
WEB OF SCIENCETM
Citations
31
checked on 29-feb-2024
Page view(s)
30
checked on 29-abr-2024
Download(s)
8
checked on 29-abr-2024
Google ScholarTM
Check
Altmetric
Altmetric
NOTA: Los ítems de Digital.CSIC están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.