Rohrer Jonathan D, Ahsan R Laila, Isaacs Adrian M, Nielsen Jorgen E, Ostergaard Leif, Scahill Rachael, Warren Jason D, Rossor Martin N, Fox Nick C, Johannsen Peter
Dementia Research Centre, Institute of Neurology, University College, London, UK.
Dement Geriatr Cogn Disord. 2009;27(2):182-6. doi: 10.1159/000200466. Epub 2009 Feb 7.
BACKGROUND/AIMS: CHMP2B mutations are a rare cause of familial frontotemporal dementia (FTD). The clinical syndrome is dominated by personality change and behavioural symptoms, but language, memory, calculation and praxis impairments are also seen early in the course of the disease. There are no detailed studies of brain imaging in CHMP2B mutation-associated FTD. This study aimed to investigate whether there were early or presymptomatic changes in this group of patients.
Subjects comprised 16 members of a Danish family with CHMP2B mutation-associated FTD. Nine subjects were presymptomatic mutation carriers with a control group of 7 mutation-negative family members. Volumetric MRI brain scans were performed on all subjects at two time points, and rates of volume change were compared between the two groups.
We demonstrate that generalized atrophy occurs presymptomatically in CHMP2B gene mutation carriers.
This finding suggests that mutations in CHMP2B have widespread effects throughout the brain, leading to a neuro-anatomical signature distinct from other diseases in the frontotemporal lobar degeneration spectrum.
背景/目的：CHMP2B突变是家族性额颞叶痴呆（FTD）的罕见病因。临床综合征以人格改变和行为症状为主，但在疾病早期也可见语言、记忆、计算和运用能力受损。目前尚无关于CHMP2B突变相关FTD脑成像的详细研究。本研究旨在调查该组患者是否存在早期或症状前改变。
研究对象包括一个患有CHMP2B突变相关FTD的丹麦家族的16名成员。9名研究对象为症状前突变携带者，另有7名突变阴性家族成员作为对照组。在两个时间点对所有研究对象进行脑部MRI容积扫描，并比较两组的体积变化率。
我们证明CHMP2B基因突变携带者在症状前就出现了广泛性萎缩。
这一发现表明CHMP2B突变对整个大脑有广泛影响，导致一种与额颞叶变性谱系中其他疾病不同的神经解剖学特征。
