Truncating mutations in APP cause a distinct neurological phenotype.
Ann Neurol
; 80(3): 456-60, 2016 Sep.
Article
en En
| MEDLINE
| ID: mdl-27422356
ABSTRACT
Dominant missense mutations in the amyloid ß (Aß) precursor protein (APP) gene have been implicated in early onset Alzheimer disease. These mutations alter protein structure to favor the pathologic production of Aß. We report that homozygous nonsense mutations in APP are associated with decreased somatic growth, microcephaly, hypotonia, developmental delay, thinning of the corpus callosum, and seizures. We compare the phenotype of this case to those reported in mouse models and demonstrate multiple similarities, strengthening the role of amyloid precursor protein in normal brain function and development. Ann Neurol 2016;80456-460.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Convulsiones
/
Discapacidades del Desarrollo
/
Precursor de Proteína beta-Amiloide
/
Cuerpo Calloso
/
Microcefalia
/
Hipotonía Muscular
Tipo de estudio:
Prognostic_studies
Límite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Ann Neurol
Año:
2016
Tipo del documento:
Article