Generalized dystonia and striatal calcifications with lipoid proteinosis
Generalized dystonia and striatal calcifications with lipoid proteinosis
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DOI：
10.1212/01.wnl.0000145602.64073.c2
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发表时间：
2004-12-14
期刊：
影响因子：
9.9
通讯作者：
McGrath, JA
中科院分区：
文献类型：
--
作者：
Teive, HAG;Pereira, ER;McGrath, JA
脂质蛋白沉积症（LP）是一种常染色体隐性遗传病，典型表现为丘疹、疣状、痘样或痤疮样疤痕和病变以及声音嘶哑。LP最近被定位到1q21位点，并被证明是由细胞外基质蛋白1基因（ECM1）突变引起的。可发生癫痫、智力迟钝和海马钙化。作者描述了一个病人的全身性肌张力障碍引起纹状体钙化。
Lipoid proteinosis (LP) is an autosomal recessive disease that typically presents with papular, verrucous, poxlike, or acneiform scars and lesions and hoarseness. LP was recently mapped to the 1q21 locus and shown to result from mutations in the extracellular matrix protein 1 gene (ECM1). Epilepsy, mental retardation, and hippocampal calcifications can occur. The authors describe a patient with generalized dystonia caused by striatal calcifications.