Familial frontotemporal dementia with ubiquitin inclusion bodies and without motor neuron disease
Familial frontotemporal dementia with ubiquitin inclusion bodies and without motor neuron disease
复制标题
具有泛素包涵体且无运动神经元疾病的家族性额颞叶痴呆
作者：
E. Kovari;G. Leuba;A. Savioz;K. Saini;R. Anastasiu;J. Miklossy;C. Bouras
额颞叶痴呆（FTD）是继阿尔茨海默病及其Lewy体变异后第二大常见的退行性痴呆。临床病理学可细分为三种主要的神经病理学亚型：额叶痴呆、皮克病和FTD伴运动神经元疾病（MND），均具有不同的组织学特征。直到最近，在齿状回、颞叶和额叶皮质中存在泛素阳性的神经元内包涵体通常与MND类型相关。在少数不伴或不伴MND的帕金森综合征（FTDP）FTD散发病例中也观察到此类包涵体。我们在这里介绍了一个瑞士FTD家族的临床、神经病理学和免疫组化资料，该家族具有FTDP样特征，但没有MND。在灰质中观察到海绵状增生和轻度胶质增生。不存在神经元缠结、皮克体、路易体、老年斑或朊病毒阳性信号。然而，泛素阳性胞浆内包涵体检测到各种结构，但主要是在齿状回。这些观察结果支持存在一个家族形式的FTDP与泛素阳性胞浆内包涵体（瑞士FTDP家族）。
Abstract Frontotemporal dementia (FTD) is the second most common degenerative dementia after Alzheimer’s disease and its Lewy body variant. Clinical pathology can be subdivided in three main neuropathological subtypes: frontal lobe dementia, Pick’s disease and FTD with motor neuron disease (MND), all characterised by distinct histological features. Until recently the presence of ubiquitin-positive intraneuronal inclusions in the dentate gyrus, and the temporal and frontal cortex was usually associated with the MND type. Such inclusions were also observed in a few sporadic cases of FTD without or with parkinsonism (FTDP) in the absence of MND. We present here clinical, neuropathological and immunohistochemical data about a Swiss FTD family with FTDP-like features but without MND. Spongiosis and mild gliosis were observed in the grey matter. No neurofibrillary tangles, Pick bodies, Lewy bodies, senile plaques or prion-positive signals were present. However, ubiquitin-positive intracytoplasmic inclusions were detected in various structures but predominantly in the dentate gyrus. These observations support the existence of a familial form of FTDP with ubiquitin-positive intracytoplasmic inclusions (Swiss FTDP family).
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影响因子：
14.5
作者：
Bird, TD;Nochlin, D;Schellenberg, GD
通讯作者：
Schellenberg, GD
DOI：
10.1097/00005072-199906000-00011
发表时间：
1999-06-01
影响因子：
3.2
作者：
Bugiani, O;Murrell, JR;Ghetti, B
通讯作者：
Ghetti, B
DOI：
10.1073/pnas.95.13.7737
发表时间：
1998-06-23
影响因子：
11.1
作者：
Spillantini, MG;Murrell, JR;Ghetti, B
通讯作者：
Ghetti, B
DOI：
10.1073/pnas.95.22.13103
发表时间：
1998-10-27
影响因子：
11.1
作者：
Clark, LN;Poorkaj, P;Wilhelmsen, KC
通讯作者：
Wilhelmsen, KC