Mutations in progranulin explain atypical phenotypes with variants in MAPT.
Brain
; 129(Pt 11): 3124-6, 2006 Nov.
Article
em En
| MEDLINE
| ID: mdl-17071927
ABSTRACT
Mutations in presenilin-1 (PSEN1) cause autosomal dominant Alzheimer's disease and mutations in MAPT cause the familial tauopathy Frontotemporal dementia linked to chromosome 17 (FTDP-17). However, there have been reports of mutations in PSEN1 and MAPT associated with cases of FTD with ubiquitin-positive tau-negative inclusion pathology. Here, we demonstrate that the MAPT variants are almost certainly rare benign polymorphisms as all of these cases harbour mutations in Progranulin (PGRN). Mutations in PGRN were recently shown to cause ubiquitin-positive FTDP-17.
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Base de dados:
MEDLINE
Assunto principal:
Proteínas tau
/
Demência
/
Peptídeos e Proteínas de Sinalização Intercelular
/
Mutação
Limite:
Humans
Idioma:
En
Revista:
Brain
Ano de publicação:
2006
Tipo de documento:
Article