Novel insertional presenilin 1 mutation causing Alzheimer disease with spastic paraparesis.
Neurology
; 62(10): 1865-8, 2004 May 25.
Article
en En
| MEDLINE
| ID: mdl-15159497
ABSTRACT
A four-generation pedigree exhibiting early-onset autosomal dominant Alzheimer disease (AD) with spastic paraplegia, dystonia, and dysarthria due to a novel 6-nucleotide insertional mutation in exon 3 of the presenilin 1 gene (PS1) is described. Serial examinations, PET scans, and autopsy revealed that the mutation in this highly conserved portion of PS1 causes an aggressive dementia that maintains the usual regional hierarchy of disease pathology while extending abnormalities into more widespread brain areas than typically seen in AD.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Mutagénesis Insercional
/
Paraparesia Espástica
/
Enfermedad de Alzheimer
/
Proteínas de la Membrana
Límite:
Adult
/
Aged
/
Aged80
/
Female
/
Humans
/
Male
/
Middle aged
País/Región como asunto:
America do norte
Idioma:
En
Revista:
Neurology
Año:
2004
Tipo del documento:
Article
País de afiliación:
Estados Unidos