Poyrazoğlu Hatice Gamze, Karaca Emin, Per Hüseyin, Gümüs Hakan, Onay Huseyin, Canpolat Mehmet, Canöz Özlem, Ozkınay Ferda, Kumandas Sefer
Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, Turkey
Department of Medical Genetics, Faculty of Medicine, Ege University, İzmir, Turkey.
J Child Neurol. 2015 May;30(6):777-81. doi: 10.1177/0883073814535489. Epub 2014 Jul 10.
Lafora disease is a rare, fatal, autosomal recessive hereditary disease characterized by epilepsy, myoclonus and progressive neurological deterioration. Diagnosis is made by polyglucosan inclusion bodies (Lafora bodies) shown in skin biopsy. Responsible mutations of Lafora disease involves either the EPM2A or NHLRC1 (EPM2B) gene. Mutations in the NHLRC1 gene are described as having a more benign clinical course and a later age of death compared with EPM2A mutations. We report 2 genetic mutations and clinical courses of Lafora disease in 3 adolescents with homozygote NHLRC1 mutation and novel homozygous EPM2A mutation.
拉福拉病是一种罕见的、致命的常染色体隐性遗传性疾病，其特征为癫痫、肌阵挛和进行性神经功能恶化。通过皮肤活检显示的多聚葡萄糖包涵体（拉福拉小体）进行诊断。拉福拉病的致病突变涉及EPM2A或NHLRC1（EPM2B）基因。与EPM2A突变相比，NHLRC1基因突变的临床病程更为良性，死亡年龄较晚。我们报告了3名青少年拉福拉病患者的2种基因突变及临床病程，这些患者存在纯合子NHLRC1突变和新的纯合子EPM2A突变。
