Manyam Bala V
Department of Neurology, Scott & White Clinic, Plummer Movement Disorders Center, The Texas A&M University System Health Science Center College of Medicine, Temple, TX 76508, USA.
Parkinsonism Relat Disord. 2005 Mar;11(2):73-80. doi: 10.1016/j.parkreldis.2004.12.001.
Bilateral almost symmetric calcification involving striatum, pallidum with or without deposits in dentate nucleus, thalamus and white matter is reported from asymptomatic individuals to a variety of neurological conditions including autosomal dominant inheritance to pseudo-pseudohypoparathyroidism. While bilateral striopallidodentate calcinosis is commonly referred to as 'Fahr's disease' (a misnomer), there are 35 additional names used in the literature for the same condition. Secondary bilateral calcification is also reported in a variety of genetic, developmental, metabolic, infectious and other conditions. In autosomal dominant or sporadic bilateral striopallidodentate calcinosis no known calcium metabolism abnormalities are known to date. Clinically, parkinsonism or other movement disorders appear to be the most common presentation, followed by cognitive impairment and ataxia. When presence of movement disorder, cognitive impairment and ataxia are present, a computed tomography scan of the head should be considered to rule-in or rule-out calcium deposits. Calcium and other mineral deposits cannot be linked to a single chromosomal locus. Further genetic studies to identify the chromosomal locus for the disease are in progress.
双侧纹状体、苍白球几乎对称钙化，伴或不伴齿状核、丘脑及白质沉积，在无症状个体以及包括常染色体显性遗传至假性甲状旁腺功能减退症等多种神经系统疾病中均有报道。虽然双侧纹状体苍白球齿状核钙化通常被称为“法尔病”（误称），但文献中针对同一病症还有另外35个名称。继发性双侧钙化在多种遗传、发育、代谢、感染及其他病症中也有报道。在常染色体显性或散发性双侧纹状体苍白球齿状核钙化中，迄今尚未发现已知的钙代谢异常。临床上，帕金森症或其他运动障碍似乎是最常见的表现，其次是认知障碍和共济失调。当出现运动障碍、认知障碍和共济失调时，应考虑进行头部计算机断层扫描以排除或确诊是否存在钙沉积。钙及其他矿物质沉积无法与单一染色体位点相关联。目前正在进行进一步的基因研究以确定该疾病的染色体位点。
