Bilateral striopallidodentate calcinosis: Clinical characteristics of patients seen in a registry
Bilateral striopallidodentate calcinosis: Clinical characteristics of patients seen in a registry
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DOI：
10.1002/mds.1049
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发表时间：
2001-03-01
影响因子：
8.6
通讯作者：
Narla, KR
中科院分区：
文献类型：
--
作者：
Manyam, BV;Walters, AS;Narla, KR
双侧条纹状齿状钙质沉着症 (BSPDC) 的临床特征，通常称为 Fahr 病（五个常染色体显性家族和八个散发病例。n = 38）。据报道，通过登记处招募。采用统一标准，结合文献报道的病例（n = 61）进行详细分析。注册患者的平均 (+/- S.D.) 年龄为 43 +/- 21 岁，文献中的平均年龄为 38 +/- 17。在组合数据集中 (n = 99)。 67 人有症状，32 人无症状。在有症状的人群中，男性的发病率高于女性（45:22）。运动障碍占有症状患者总数的55%。在运动障碍中，帕金森症占57%。舞蹈症 19%，震颤 8%，肌张力障碍 8%。手足徐动症 5%，口面运动障碍 3%，涉及中枢神经系统 (CNS) 不同区域的体征重叠很常见。其他神经系统表现包括：认知障碍、小脑体征、言语障碍、锥体体征、精神特征、步态障碍、感觉改变和疼痛。我们使用电子平面计和坐标数字化仪测量了钙化的总体积。结果表明，与无症状患者相比，有症状患者的钙化量明显较多。这项研究表明，运动障碍是 BSPDC 最常见的表现，而在运动障碍中，帕金森病的数量最多。 (C) 2001 年运动障碍协会。
Clinical features in bilateral striopallidodentate calcinosis (BSPDC), popularly referred to as Fahr's disease (five autosomal dominant families and eight sporadic cases. n = 38). recruited through a registry, are reported. Applying uniform criteria, cases reported in the literature (n = 61) were combined for detailed analysis. The mean (+/- S.D.) age of Registry patients was 43 +/- 21 and that of literature was 38 +/- 17. In combined data set (n = 99). 67 were symptomatic and 32 were asymptomatic. Of the symptomatic, the incidence among men was higher compared with women (45:22). Movement disorders accounted for 55% of the total symptomatic patients. Of the movement disorders, parkinsonism accounted for 57%. chorea 19%, tremor 8%, dystonia 8%. athetosis 5%, and orofacial dyskinesia 3%, Overlap of signs referable to different areas of central nervous system (CNS) was common. Other neurologic manifestations included: cognitive impairment, cerebellar signs, speech disorder, pyramidal signs, psychiatric features, gait disorders, sensory changes, and pain. We measured the total volume of calcification using an Electronic Planimeter and Coordinate Digitizer. Results suggest a significantly greater amount of calcification in symptomatic patients compared to asymptomatic patients. This study suggests that movement disorders are the most common manifestations of BSPDC, and among movement disorders, parkinsonism outnumber others. (C) 2001 Movement Disorder Society.