title: Constructional apraxia in frontotemporal dementia associated with the C9orf72 mutation: broadening the clinical and neuropsychological phenotype.
abstract: In our study we analysed clinical and neuropsychological data in a cohort of 57 Sardinian patients with FTD (55 apparently unrelated and two belonging to the same family), who underwent genetic screening for the C9orf72 mutation. Eight out of 56 patients were found positive for the C9orf72 mutation representing 14% of the entire cohort and 31.6% of the familial cases (6/19). C9orf72 mutated patients differed from the other FTD cases of the cohort for a younger age of onset, higher frequency of familial history for FTD and higher prevalence of delusional psychotic symptoms and hallucinations. In the neuropsychological assessment, C9orf72 mutated patients differed from non-mutated for the high frequency of visuospatial dysfunction regarding constructional apraxia (p = 0.02). In conclusion, our study confirms that Sardinian FTD patients have peculiar genetic characteristics and that C9orf72 mutated patients have a distinctive clinical and neuropsychological profile that could help differentiate them from other FTD patients. In our cohort we found that constructional apraxia, rarely reported in FTD, can properly discriminate between C9orf72 mutated and non-mutated patients and contribute to broaden the neuropsychological profile in frontotemporal dementia associated with this mutation.
authors.affiliation: Department of Neurology, Azienda Universitaria-Ospedaliera of Cagliari and University of Cagliari , Cagliari , Italy.
authors.forename: Gianluca
authors.initials: G
authors.lastname: Floris
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Borghero
authors.forename: Antonino
authors.initials: A
authors.lastname: Cannas
authors.forename: Francesca
authors.initials: F
authors.lastname: Di Stefano
authors.forename: Elisa
authors.initials: E
authors.lastname: Ruiu
authors.forename: Maria R
authors.initials: MR
authors.lastname: Murru
authors.forename: Daniela
authors.initials: D
authors.lastname: Corongiu
authors.forename: Stefania
authors.initials: S
authors.lastname: Cuccu
authors.forename: Stefania
authors.initials: S
authors.lastname: Tranquilli
authors.forename: Claudia
authors.initials: C
authors.lastname: Sardu
authors.forename: Maria G
authors.initials: MG
authors.lastname: Marrosu
authors.forename: Adriano
authors.initials: A
authors.lastname: Chiò
authors.forename: Francesco
authors.initials: F
authors.lastname: Marrosu
mesh_terms: D000368:Aged; D001072:Apraxias / Q000209:etiology* / Q000235:genetics*; D001921:Brain / Q000000981:diagnostic imaging; D000073885:C9orf72 Protein; D015331:Cohort Studies; D005260:Female; D057180:Frontotemporal Dementia / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics*; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009483:Neuropsychological Tests; D010468:Perceptual Disorders / Q000209:etiology / Q000235:genetics; D010641:Phenotype; D010775:Photic Stimulation; D011506:Proteins / Q000235:genetics*; D015899:Tomography, Emission-Computed, Single-Photon
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins
keywords: C9orf72; FTD; constructional apraxia; visuospatial dysfunction