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The commonest genetic cause of frontotemporal dementia (FTD) is a hexanucleotide repeat expansion in the chromosome 9 open reading frame 72 gene (C9ORF72).1 ,2 The clinical presentation is heterogeneous.3 Patients with C9ORF72 expansions may exhibit behavioural variant FTD (bvFTD) with or without motor neuron disease, psychosis and non-fluent aphasia, and, more rarely, parkinsonian syndromes such as corticobasal syndrome (CBS).
We describe an Italian family carrying the C9ORF72 mutation in which prototypical features of FTD were, unusually, combined with an isolated left hand dystonia occurring in the absence of extrapyramidal signs or apraxia.
The family was native to a small village in the Marche region of Italy. To preserve anonymity, family members are referred to by the abbreviation (AN) of the province (Ancona) where they were examined. Eight family members had dementia (see figure 1 for genealogical tree).
Four family members were available for assessment: two sisters with FTD (AN1 and AN2), and a healthy brother (AN3) and cousin (AN4). AN6 and AN7 were reported to have died after a 6–10-year history of dementia beginning with behavioural problems/psychosis. AN8, AN9 and AN10 were also said to suffer from dementia, although no details were available.
AN1, a 59-year-old right-handed woman, a native Italian housewife, presented with a 2-year history of behavioural problems. Early …
Contributors SL designed data collection, monitored data collection, and drafted and revised the paper. She is guarantor. FG and CF collected clinical data and AN family history. VC and SB performed general and neurological examination. VR performed the neuropsychological examination. MS and LP revised the literature and the paper. SR performed genetic analysis. SP-B performed the genetic analysis. DM revised the paper. JSS drafted and revised the paper.
Competing interests None declared.
Patient consent Obtained.
Ethics approval Institutional Review Board.
Provenance and peer review Not commissioned; externally peer reviewed.
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