A New Presenilin-1 Missense Variant Associated With a Progressive Supranuclear Palsy-like Phenotype.
Alzheimer Dis Assoc Disord
; 37(1): 82-84, 2023.
Article
em En
| MEDLINE
| ID: mdl-35383591
ABSTRACT
Early-onset forms of Alzheimer disease (AD) have been associated with pathogenic variants in the APP , PSEN1 , and PSEN2 genes. Mutations in presenilin-1 ( PSEN1 ) account for the majority of cases of autosomal dominant AD. Numerous phenotypes have been associated with PSEN1 -pathogenic variants, including cerebellar ataxia and spastic paraplegia. Here, we describe a patient with early-onset AD presenting with extrapyramidal symptoms and supranuclear gaze palsy, mimicking progressive supranuclear palsy.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Paralisia Supranuclear Progressiva
/
Doença de Alzheimer
Tipo de estudo:
Risk_factors_studies
Limite:
Humans
Idioma:
En
Revista:
Alzheimer Dis Assoc Disord
Assunto da revista:
NEUROLOGIA
/
PSIQUIATRIA
Ano de publicação:
2023
Tipo de documento:
Article