Lowden Max R, Scott Kevin, Kothari Milind J
The Pennsylvania State University Milton S. Hershey Medical Center College of Medicine, Hershey, Pennsylvania, USA.
Epileptic Disord. 2008 Dec;10(4):271-5. doi: 10.1684/epd.2008.0216.
Creutzfeldt-Jakob disease (CJD) is a rare disorder caused by prions that can affect any part of the central nervous system. It is characterized by a long incubation period, but once symptoms start there is a progressive neurological decline. Clinical features include dementia, ataxia and myoclonus (startle), among others. We report a biopsy-proven case of familial CJD (fCJD) presenting with continuous focal seizures, epilepsia partialis continua (EPC), as the initial presentation. CJD is an unusual neurological disorder with an incidence of approximately one case per million population (Prusiner 2001). The disorder is due to neuronal degeneration resulting from the accumulation of a pathological isoform (PrP) of the prion protein (PrPc). Patients with fCJD have mutations in the gene encoding PrPc (PRNP) (Vercueil 2006, Collins et al. 2004). This fCJD represents 10-15% of CJD cases making the sporadic form more common 85-95% (Parry et al. 2001). During the course of the disease myoclonus has been reported in 88% of cases, and epileptic seizures (partial seizures, generalized status epilepticus) in 8% (Vercueil 2006). Periodic sharp wave complexes (PSWC) are uncommon in fCJD and occur in about 10% of patients (Wieser et al. 2006).
克雅氏病（CJD）是一种由朊病毒引起的罕见疾病，可影响中枢神经系统的任何部位。其特点是潜伏期长，但一旦出现症状，就会出现进行性神经功能衰退。临床特征包括痴呆、共济失调和肌阵挛（惊吓反应）等。我们报告一例经活检证实的家族性克雅氏病（fCJD）病例，其最初表现为持续性局灶性癫痫发作，即持续性部分性癫痫（EPC）。克雅氏病是一种不常见的神经系统疾病，发病率约为每百万人口一例（普鲁辛纳，2001年）。该疾病是由于朊病毒蛋白（PrPc）的病理性异构体（PrP）积累导致神经元变性所致。fCJD患者在编码PrPc的基因（PRNP）中存在突变（韦尔奎尔，2006年；柯林斯等人，2004年）。这种fCJD占克雅氏病病例的10 - 15%，因此散发性形式更为常见，占85 - 95%（帕里等人，2001年）。在疾病过程中，88%的病例报告有肌阵挛，8%有癫痫发作（部分性发作、全身性癫痫持续状态）（韦尔奎尔，2006年）。周期性锐波复合波（PSWC）在fCJD中不常见，约10%的患者会出现（维泽尔等人，2006年）。
