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. 2017 Aug;13(8):858-869.
doi: 10.1016/j.jalz.2017.01.011. Epub 2017 Mar 3.

Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy

Rosa Capozzo  1 , Celeste Sassi  2 , Monia B Hammer  3 , Simona Arcuti  1 , Chiara Zecca  1 , Maria R Barulli  1 , Rosanna Tortelli  1 , J Raphael Gibbs  4 , Cynthia Crews  4 , Davide Seripa  5 , Francesco Carnicella  6 , Claudia Dell'Aquila  6 , Marco Rossi  7 , Filippo Tamma  7 , Francesco Valluzzi  8 , Bruno Brancasi  9 , Francesco Panza  10 , Andrew B Singleton  4 , Giancarlo Logroscino  11
Affiliations

Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy

Rosa Capozzo et al. Alzheimers Dement. 2017 Aug.

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.

Keywords: Behavioral variant of FTD; Frontotemporal dementia; Primary progressive aphasia: familial; Semantic dementia; Sporadic.

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Figures

Figure 1
Figure 1
Pedigrees of frontotemporal dementia (FTD) families A,B,C,D,E,F,G, and H.
Figure 1
Figure 1
Pedigrees of frontotemporal dementia (FTD) families A,B,C,D,E,F,G, and H.
Figure 1
Figure 1
Pedigrees of frontotemporal dementia (FTD) families A,B,C,D,E,F,G, and H.
Figure 1
Figure 1
Pedigrees of frontotemporal dementia (FTD) families A,B,C,D,E,F,G, and H.
Figure 1
Figure 1
Pedigrees of frontotemporal dementia (FTD) families A,B,C,D,E,F,G, and H.
Figure 1
Figure 1
Pedigrees of frontotemporal dementia (FTD) families A,B,C,D,E,F,G, and H.
Figure 1
Figure 1
Pedigrees of frontotemporal dementia (FTD) families A,B,C,D,E,F,G, and H.
Figure 2
Figure 2
Clinical frontotemporal dementia (FTD) subtypes [familial: behavioral variant of frontotemporal dementia (bvFTD) 50%, primary progressive aphasia (PPA) 18%, semantic dementia (SD) 0%, FTD-memory onset 32%; sporadic: bvFTD 69%, PPA 31%, SD 0%].
Figure 3
Figure 3
Behaviour and language changes observed at onset in the whole cohort of familial and sporadic frontotemporal dementia cases without considering diagnostic subtypes.
Figure 4
Figure 4
Frequencies of behaviour and language changes at onset respectively in behavioral variant of frontotemporal dementia (bvFTD) and primary progressive aphasia (PPA) both in familial and sporadic forms.
Figure 5
Figure 5
Number of symptoms (1–3; 4–6; 7–9) referred at onset in familial and sporadic frontotemporal dementia patients.
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