Chorea as a clinical feature of the basophilic inclusion body disease subtype of fused-in-sarcoma-associated frontotemporal lobar degeneration.
Chorea as a clinical feature of the basophilic inclusion body disease subtype of fused-in-sarcoma-associated frontotemporal lobar degeneration.
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DOI：
10.1186/s40478-016-0304-9
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发表时间：
2016-04-04
影响因子：
7.1
通讯作者：
Akiyama H
中科院分区：
文献类型：
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作者：
Kawakami I;Kobayashi Z;Arai T;Yokota O;Nonaka T;Aoki N;Niizato K;Oshima K;Higashi S;Katsuse O;Hosokawa M;Hasegawa M;Akiyama H
在额颞叶变性（FTLD）患者中很少报告舞蹈徐动样不自主运动，这表明在FTLD的临床诊断标准中将其排除作为支持性特征。在这里，我们确定了3例行为变异的额颞叶痴呆（bvFTD），显示舞蹈病与融合肉瘤（FUS）阳性包涵体（FTLD-FUS）和嗜碱性包涵体病（BIBD）亚型。我们确定的行为和认知功能，在这一组是不同于其他FTLD-FUS案件。我们还审查了72例FTLD病例的临床记录，并阐明了预测BIBD病理的其他临床特征。3例舞蹈病患者的症状发作年龄为44.0岁（±12.0岁），且无痴呆家族史。这些病例与FTD的临床形式bvFTD以及除舞蹈病外的神经肌肉张力降低一致。这三名患者没有表现出或表现出轻度帕金森综合征，相比之下，在其他FTLD病例中，帕金森综合征大幅增加，直到疾病的后期。这三名患者表现出严重的尾状核萎缩，这是先前报道的区分FTLD-FUS与FTLD-tau或FTLD-TAR DNA结合蛋白43的组织学特征。因此，我们的研究结果表明，bvFTD中舞蹈手足徐动症的临床特征可能与FTLD-FUS相关，特别是与BIBD亚型相关。
Choreoathetoid involuntary movements are rarely reported in patients with frontotemporal lobar degeneration (FTLD), suggesting their exclusion as a supportive feature in clinical diagnostic criteria for FTLD. Here, we identified three cases of the behavioral variant of frontotemporal dementia (bvFTD) that display chorea with fused in sarcoma (FUS)-positive inclusions (FTLD-FUS) and the basophilic inclusion body disease (BIBD) subtype. We determined the behavioral and cognitive features in this group that were distinct from other FTLD-FUS cases. We also reviewed the clinical records of 72 FTLD cases, and clarified additional clinical features that are predictive of the BIBD pathology. Symptom onset in the three patients with chorea was at 44.0 years of age (±12.0 years), and occurred in the absence of a family history of dementia. The cases were consistent with a clinical form of FTD known as bvFTD, as well as reduced neurological muscle tone in addition to chorea. The three patients showed no or mild parkinsonism, which by contrast, increased substantially in the other FTLD cases until a later stage of disease. The three patients exhibited severe caudate atrophy, which has previously been reported as a histological feature distinguishing FTLD-FUS from FTLD-tau or FTLD-TAR DNA-binding protein 43. Thus, our findings suggest that the clinical feature of choreoathetosis in bvFTD might be associated with FTLD-FUS, and in particular, with the BIBD subtype.