Manyam B V, Walters A S, Narla K R
Department of Neurology, Scott & White Clinic and Memorial Hospital and Texas A&M University System Health Science Center College of Medicine, Temple, Texas 76508, USA.
Mov Disord. 2001 Mar;16(2):258-64. doi: 10.1002/mds.1049.
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.
报告了通过登记处招募的双侧纹状体苍白球齿状核钙化症（BSPDC，俗称法尔病，包括5个常染色体显性遗传家族和8例散发病例，共38例）的临床特征。应用统一标准，将文献中报道的病例（61例）合并进行详细分析。登记处患者的平均（±标准差）年龄为43±21岁，文献报道患者的平均年龄为38±17岁。在合并数据集中（共99例），67例有症状，32例无症状。有症状的患者中，男性发病率高于女性（45:22）。运动障碍占所有有症状患者的55%。在运动障碍中，帕金森综合征占57%，舞蹈症占19%，震颤占8%，肌张力障碍占8%，手足徐动症占5%，口面部运动障碍占3%。中枢神经系统（CNS）不同区域相关体征的重叠很常见。其他神经学表现包括：认知障碍、小脑体征、言语障碍、锥体束征、精神症状、步态障碍、感觉变化和疼痛。我们使用电子面积测量仪和坐标数字化仪测量钙化的总体积。结果表明，有症状患者的钙化量明显多于无症状患者。本研究表明，运动障碍是BSPDC最常见的表现，在运动障碍中，帕金森综合征的患者数量多于其他类型。
