家族性额颞叶痴呆家系的一家系

摘要

目的 额颞叶痴呆(FTD)是一种异质性很强的神经系统变性疾病.本文报道1个已有5代患病FTD家系,并分析先证者及目前仍存活3例患者的临床和头颅结构磁共振(MRI)表现.方法 收集FTD家系1个,对其先证者及目前仍存活3例患者进行病史询问、体格检查、神经心理评估、结构MRI检查.结果 该家系5代成员每代均有发病,目前共有26例患者,其中男性11例、女性15例,现存活男性患者1例,女性患者3例.患者发病年龄50~65岁,平均年龄(58.11±3.90)岁,病程1~8年,平均(4.86±2.01)年.多以精神行为异常为首发症状,疾病初期伴或不伴记忆力减退,随病程延长,行为异常、记忆力减退进行性加重.神经心理量表检测示简易精神状态评估量表(MMSE)16~28分、蒙特利尔认知评估量表(MoCA) 11~25分,画钟试验1~3分,神经精神量表(NPI)11~17分,额叶行为评定量表(FBI)10~33分.先证者及其他3例患者头颅MRI出现(由基本正常到中度额颞叶皮质萎缩的),不同程度双侧基本对称或不对称的额颞叶为主的脑萎缩.结论 家族性FTD为早发性痴呆,以精神行为异常为临床最常见表现,头颅MRI出现双侧基本对称或不对称的额颞叶为主的脑萎缩有助于FTD的早期诊断.%Objective? Frontotemporal dementia (FTD) is a highly heterogeneous neurodegenerative disease. This article reports a large family of FTD with 5 generations of disease, and analyses the clinical and brain structural magnetic resonance imaging(MRI) manifestations of proband and 3 patients who are still alive. Method One family of FTD was collected, and its proband and 3 patients who are still alive were investigated for medical history, physical examination, neuropsychological assessment and structural MRI. Results? There were 26 cases of the disease in the family of 5 generations, including 11 males and 15 females, 1 living male and 3 living female. The patients were aged 50 to 65 years, with an average age of 58.11±3.90, the disease duration was 1 to 8 years, with an average of 4.86±2.01 years. Mental behavior is often the first symptom, with or without memory loss at the initial stage of the disease, with the prolonged course of disease, behavior abnormalities, memory loss progressively aggravate. The neuropsychological scale measured minimum mental state examination (MMSE) with scores from 16 to 28, the Montreal cognitive assessment scale (MoCA) with scores from 11 to 25, the bell test with scores from 1 to 3, the neuropsychiatric inventory scale (NPI) with scores from 11 to 17, and the frontal behavioral inventory assessment scale (FBI) with scores from 10 to 33. The proband and the other 3 patients presented different degrees of bilateral basically symmetrical or asymmetrical frontal and temporal lobes of brain atrophy.Conclusion Familial FTD is an early onset dementia, and mental behavior abnormality is the most common clinical manifestation. Brain MRI with bilateral basically symmetrical or asymmetrical frontal and temporal lobar atrophy is helpful for the early diagnosis of FTD.