Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy.
Alzheimers Dement
; 13(8): 858-869, 2017 Aug.
Article
en En
| MEDLINE
| ID: mdl-28264768
ABSTRACT
INTRODUCTION:
We investigated the clinical differences between familial and sporadic frontotemporal dementia (FTD), screening for mutations in known FTD genes.METHODS:
We diagnosed 22 affected individuals belonging to eight families and 43 sporadic cases with FTD in Apulia, Southern Italy, in 2 years. Mutations in common causative FTD genes (GRN, MAPT, VCP, and TARDBP) and C9ORF72 expansions were screened.RESULTS:
Behavioral variant of FTD was the most common clinical subtype (50% and 69% in familial and sporadic cases, respectively). Social conduct impairment/disinhibition, loss of insight, and inflexibility were the most frequent clinical features observed at onset. One new mutation was identified in GRN in family A.DISCUSSION:
Disease onset in sporadic FTD was more frequently characterized by a clustering of behavioral symptoms with apathy and loss of personal hygiene. Mutations in common causative FTD genes are not a major cause of familial and sporadic FTD in the Southern Italian population.Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Demencia Frontotemporal
Tipo de estudio:
Prognostic_studies
País/Región como asunto:
Europa
Idioma:
En
Revista:
Alzheimers Dement
Año:
2017
Tipo del documento:
Article