一名进行性肌阵挛癫痫患者的芳基硫酸酯酶A假性缺乏症和拉福拉小体

Arylsulfatase A pseudodeficiency and Lafora bodies in a patient with progressive myoclonic epilepsy.

作者信息

Tinuper P, Plazzi G, Monari L, Sangiorgi S, Pellissier J F, Cerullo A, Provini F, Capellari S, Baruzzi A, Lugaresi E

机构信息

Neurologic Institute, University of Bologna, Italy.

出版信息

Epilepsia. 1994 Mar-Apr;35(2):332-5. doi: 10.1111/j.1528-1157.1994.tb02440.x.

DOI:10.1111/j.1528-1157.1994.tb02440.x

PMID:7908874

Abstract

Since age 12 years, a 25-year-old woman had a syndrome with myoclonic epilepsy, cerebellar signs, and spontaneous myoclonus. Skin biopsy showed typical Lafora bodies (LB), but she lacked a progressive course and mental impairment, hallmarks of Lafora disease. Lysosomal enzyme assays showed low level arylsulfatase A (ASA) activity. DNA study disclosed a homozygous ASA Pd genotype. Both parents carried one Pd allele. The still-unknown relationship between the pathologic level of ASA activity and myoclonic epilepsies suggests introduction of ASA assays in patients with PME.

摘要

一名25岁女性自12岁起患有一种伴有肌阵挛性癫痫、小脑体征和自发性肌阵挛的综合征。皮肤活检显示典型的拉福拉小体（LB），但她没有进行性病程和智力障碍，而这是拉福拉病的特征。溶酶体酶检测显示芳基硫酸酯酶A（ASA）活性水平较低。DNA研究揭示了一种纯合的ASA Pd基因型。父母双方均携带一个Pd等位基因。ASA活性的病理水平与肌阵挛性癫痫之间仍不明的关系提示在进行性肌阵挛性癫痫患者中开展ASA检测。