1. Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy
- Author
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B Brancasi, Andrew B. Singleton, Cynthia Crews, Rosanna Tortelli, Marco Rossi, Monia B. Hammer, Filippo Tamma, Simona Arcuti, J. Raphael Gibbs, Davide Seripa, Francesco Carnicella, Celeste Sassi, Claudia Dell'Aquila, Chiara Zecca, Maria Rosaria Barulli, Francesco Valluzzi, Giancarlo Logroscino, Francesco Panza, and Rosa Capozzo
- Subjects
0301 basic medicine ,Male ,Epidemiology ,0302 clinical medicine ,Progranulins ,Personal hygiene ,C9orf72 ,Valosin Containing Protein ,Apathy ,Registries ,Age of Onset ,Genetics ,Health Policy ,Middle Aged ,DNA-Binding Proteins ,Psychiatry and Mental health ,Italy ,Frontotemporal Dementia ,Intercellular Signaling Peptides and Proteins ,Female ,medicine.symptom ,Psychology ,Frontotemporal dementia ,medicine.medical_specialty ,Semantic dementia ,tau Proteins ,TARDBP ,White People ,Article ,03 medical and health sciences ,Cellular and Molecular Neuroscience ,Developmental Neuroscience ,mental disorders ,medicine ,Humans ,Family ,Genetic Predisposition to Disease ,Psychiatry ,Aged ,C9orf72 Protein ,nutritional and metabolic diseases ,medicine.disease ,nervous system diseases ,030104 developmental biology ,Mutation ,Neurology (clinical) ,Geriatrics and Gerontology ,Age of onset ,030217 neurology & neurosurgery - 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.
- Published
- 2016