Sommerlad Andrew, Lee James, Warren Jason, Price Gary
Division of Psychiatry, University College London, London, UK.
Camden and Islington NHS Foundation Trust, London, UK.
BMJ Case Rep. 2014 Jun 13;2014:bcr2013203458. doi: 10.1136/bcr-2013-203458.
A man presenting in his 50s, following conviction for a non-violent crime, to forensic psychiatric services, and then to a neuropsychiatry service with an unusual presentation of psychosis: second person auditory hallucinations, grandiose delusions and somatic delusions. Detailed collateral and family history revealed a background of progressive cognitive deficit and a family history of motor neuron disease. MRI of the brain revealed asymmetrical parieto-occipital volume loss and genetic testing demonstrated a pathogenic expansion of the chromosome 9 open reading frame 72 (C9ORF72) gene consistent with familial frontotemporal dementia caused by a hexanucleotide repeat expansion at C9ORF72, a recently discovered cause of familial frontotemporal dementia/motor neuron disease. This form of frontotemporal dementia should be considered as an important potential differential diagnosis for patients presenting with psychotic symptoms in later life, in whom a detailed family history and thorough cognitive assessment is essential.
一名50多岁的男子，因非暴力犯罪被定罪后，被转介至法医精神病服务机构，随后又被转至神经精神病服务机构，其患有一种不寻常的精神病表现：第二人称幻听、夸大妄想和躯体妄想。详细的旁证和家族史显示其存在进行性认知缺陷背景以及运动神经元病家族史。脑部磁共振成像（MRI）显示顶枕叶不对称性体积减小，基因检测显示9号染色体开放阅读框72（C9ORF72）基因存在致病性扩增，这与C9ORF72处六核苷酸重复扩增导致的家族性额颞叶痴呆一致，C9ORF72是家族性额颞叶痴呆/运动神经元病的一个最近发现的病因。这种形式的额颞叶痴呆应被视为晚年出现精神病症状患者的重要潜在鉴别诊断，对于这些患者，详细的家族史和全面的认知评估至关重要。
