Early-onset, rapidly progressive familial tauopathy with R406W mutation.
Neurology
; 58(5): 811-3, 2002 Mar 12.
Article
em En
| MEDLINE
| ID: mdl-11889249
ABSTRACT
An early-onset and rapidly progressive familial tauopathy with R406W mutation is described. The patient was a 47-year-old man who first presented with psychiatric symptoms followed by overt dementia at age 52 and died 1 year later. Postmortem study revealed tangle-associated neuronal degeneration, accentuated in the medial temporal lobe. R406W mutation was determined by sequence analysis and immunocytochemically with anti-mutant tau antibody.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas tau
/
Tauopatias
/
Demência
Tipo de estudo:
Etiology_studies
Limite:
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Neurology
Ano de publicação:
2002
Tipo de documento:
Article
País de afiliação:
Japão