Clinical and pathological features of an Alzheimer's disease patient with the MAPT Delta K280 mutation.
Neurobiol Aging
; 30(3): 388-93, 2009 Mar.
Article
em En
| MEDLINE
| ID: mdl-17723255
ABSTRACT
We identified a case of Alzheimer's disease with a deletion of the lysine residue at codon 280 (DeltaK280) in exon 10-encoded microtubule-binding repeat domain of the tau gene (MAPT). This mutation was originally identified in a sporadic case of frontotemporal dementia (FTD) with a family history of Parkinson's disease. In the original report, the authors were careful in their assessment of the pathogenicity and suggested one could not be sure whether the mutation was pathogenic or not. The mutation has always presented a conundrum because it is the only known mutation, of assumed pathogenicity, which increases the proportion of 3-repeat tau mRNA in in vitro assays. Here we present the clinical and pathological features of a new case with this mutation and discuss whether the mutation is indeed pathogenic.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas tau
/
Deleção de Genes
/
Doença de Alzheimer
Tipo de estudo:
Prognostic_studies
Limite:
Aged80
/
Humans
/
Male
Idioma:
En
Revista:
Neurobiol Aging
Ano de publicação:
2009
Tipo de documento:
Article
País de afiliação:
Estados Unidos