Early psychiatrics symptoms in familial Alzheimer's disease with presenilin 1 mutation (I83T).
J Neural Transm (Vienna)
; 123(4): 451-3, 2016 Apr.
Article
en En
| MEDLINE
| ID: mdl-26695639
ABSTRACT
Several clinical phenotypes were associated with presenilin 1 (PSEN1) mutation in early-onset familial Alzheimer's disease (EOFAD). We report the clinical phenotype of two members of a familial dementia kindred who presented with EOFAD and early psychiatric syndrome as behavioral abnormalities. Sequence analysis of the index patient and his brother's PSEN1 transcript revealed a novel T > C transition in exon 4 which was determined as a missense substitution at position 248 of the coding sequence (cDNA. 248T > C).
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Presenilina-1
/
Enfermedad de Alzheimer
/
Mutación
Tipo de estudio:
Diagnostic_studies
Límite:
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
J Neural Transm (Vienna)
Año:
2016
Tipo del documento:
Article
País de afiliación:
Túnez