Clinical heterogeneity of the C9orf72 genetic mutation in frontotemporal dementia.
Neurocase
; 21(4): 535-41, 2015.
Article
em En
| MEDLINE
| ID: mdl-25138488
ABSTRACT
The C9orf72 genetic mutation represents the most common cause of familial frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Studies over the last 2 years have revealed a number of key features of this mutation in the fields of clinical neurology, imaging, pathology, and genetics. Despite these efforts, the clinical phenotype appears to extend beyond FTD and ALS into the realm of psychiatric disease, and while highly variable survival rates have been reported, the clinical course of carriers remains relatively unexplored. This report describes two contrasting C9orf72 cases, one with a protracted indolent course dominated by neuropsychiatric features and the other with a rapidly progressive dementia. In both cases, initial structural brain imaging was relatively normal.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Encéfalo
/
Proteínas
/
Progressão da Doença
/
Demência Frontotemporal
/
Mutação
Limite:
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Neurocase
Assunto da revista:
CIENCIAS DO COMPORTAMENTO
/
NEUROLOGIA
/
PSICOLOGIA
/
PSIQUIATRIA
Ano de publicação:
2015
Tipo de documento:
Article
País de afiliação:
Austrália