Abstract
BackgroundFrontotemporal dementia (FTD) may present with psychiatric symptoms, usually together with neurological ones and in cases with a family history of dementia. We describe the case of an FTD behavioural variant with a psychiatric presentation and a normal neurological examination, due to a C9Orf72 gene mutation.Case presentationThe patient was a 57 years-old Caucasian woman with a recent onset of bizarre behaviours and mystic delusions. She had a negative clinical history for previous psychiatric disorders and treatments and this was her first admission to a Psychiatry Ward. A careful assessment was performed including, beyond psychiatric evaluation, the following: blood sampling, neurological examination (including electroencephalogram, electroencephalogram with zygomatic electrodes, Positron Emission Tomography, Cerebrospinal Fluid Analysis), carotid artery Doppler ultrasound, brain Magnetic Resonance Imaging – angio Magnetic Resonance Imaging. Blood sampling for the genetic assessment of mutations associated to primary dementias was performed as well: the genes investigated were FUS, C9Orf72, PSEN-1, PSEN-2.ConclusionsSerological tests were negative, neurological examination was normal, instrumental examinations showed theta waves in the posterior temporal areas bilaterally and frontotemporal cortical atrophy bilaterally. The genetic assessment of mutations associated revealed she carried a GGGGCC hexanucleotide repeat expansion (at least 80 repeats) in C9Orf72 intron 1. Patients carrying the C9Orf72 mutation are likely to receive a psychiatric diagnosis (mainly mood disorder or schizophrenia) prior to correct diagnosis; this may be particularly problematic for those patients with no neurological signs to orientate diagnosis. Understanding the manner in which such FTD variant may present as a psychiatric syndrome, with a negative neurological examination, is essential to provide the best treatment for patients, as soon as possible, especially when the behavioural anomalies interfere with their care.
Highlights
Frontotemporal dementia (FTD) may present with psychiatric symptoms, usually together with neurological ones and in cases with a family history of dementia
Understanding the manner in which such FTD variant may present as a psychiatric syndrome, with a negative neurological examination, is essential to provide the best treatment for patients, as soon as possible, especially when the behavioural anomalies interfere with their care
Our patient presented a GGGGCC hexanucleotide repeat expansion of chromosome 9 open reading frame gene (C9Orf72): some Authors [5] claim that the GGGGCC repeat length in healthy individuals ranges from 2–23 hexanucleotide units, whereas they estimate the repeat length to be 700–1600 units in FTD/ALS patients based on DNA from lymphoblast cell lines
Summary
Our patient presented a GGGGCC hexanucleotide repeat expansion of C9Orf: some Authors [5] claim that the GGGGCC repeat length in healthy individuals ranges from 2–23 hexanucleotide units, whereas they estimate the repeat length to be 700–1600 units in FTD/ALS patients based on DNA from lymphoblast cell lines. Recent evidence suggests that cerebellar patients can show cognitive and affective deficits, in particular executive dysfunction, impaired spatial memory, and personality changes such as disinhibited or inappropriate behaviour, which sometimes raises to psychotic features [13] Such psychiatric disturbances due to cerebellar dysfunction are in accordance with the finding that C9Orf patients show a higher incidence of psychiatric symptoms compared to sporadic FTD cases [14]. The patient we described came to the attention of Psychiatrists earlier than of Neurologists, being her main symptoms represented by bizarre behaviours and mystic delusions, while her memory impairment and executive dysfunction only emerged during our examination Her neurologic examination kept normal, faced with imaging evidence of cortical and cerebellar atrophy, to the case described by Arighi and coworkers [10]. Author details 1Institute of Psychiatry, Dipartimento di Medicina Traslazionale, Università degli Studi del Piemonte Orientale, Novara, Italy. 2Institute of Neurology, Dipartimento di Medicina Traslazionale, Università degli Studi del Piemonte Orientale, Novara, Italy. 3SC Neurologia, AOU Maggiore della Carità, Novara, Italy. 4Dipartimento di Scienze della Salute, Università degli Studi del Piemonte Orientale, Novara, Italy. 5SC Psichiatria AOU Maggiore della Carità, Novara, Italy
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