Gramaglia Carla, Cantello Roberto, Terazzi Emanuela, Carecchio Miryam, D'Alfonso Sandra, Chieppa Nunzia, Ressico Francesca, Rizza Maria Cristina, Zeppegno Patrizia
BMC Neurol. 2014 Nov 30;14:228. doi: 10.1186/s12883-014-0228-6.
Frontotemporal 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.
The 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.
Serological 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.
额颞叶痴呆（FTD）可能表现为精神症状，通常与神经症状同时出现，且多见于有痴呆家族史的病例。我们描述了一例因C9Orf72基因突变导致的具有精神症状表现且神经系统检查正常的FTD行为变异型病例。
患者为一名57岁的白种女性，近期出现怪异行为和神秘妄想。她既往无精神疾病及治疗史，此次是首次入住精神科病房。除了精神科评估外，还进行了仔细的评估，包括：血液采样、神经系统检查（包括脑电图、带颧部电极的脑电图、正电子发射断层扫描、脑脊液分析）、颈动脉多普勒超声、脑磁共振成像 - 血管磁共振成像。同时进行了血液采样以对与原发性痴呆相关的突变进行基因评估：所检测的基因包括FUS、C9Orf72、PSEN - 1、PSEN - 2。
血清学检查结果为阴性，神经系统检查正常，影像学检查显示双侧颞叶后部区域出现θ波以及双侧额颞叶皮质萎缩。相关突变的基因评估显示她在C9Orf72基因内含子1中存在GGGGCC六核苷酸重复扩增（至少80次重复）。携带C9Orf72突变的患者在正确诊断之前很可能会被诊断为精神疾病（主要是情绪障碍或精神分裂症）；对于那些没有神经体征来指导诊断的患者来说，这可能会带来特别的问题。了解这种FTD变异型在神经系统检查阴性时如何表现为精神综合征，对于尽快为患者提供最佳治疗至关重要，尤其是当行为异常影响到他们的护理时。
