The first Japanese case of variant Creutzfeldt-Jakob disease showing periodic electroencephalogram.

摘要

In February, 2004, a 50-year-old Japanese man was referred to our Creutzfeldt-Jakob disease (CJD) surveillance committee. In the first half of 1990, the patient had spent about 24 days in the UK, 3 days in France, and 2 weeks in other European countries where variant CJD (vCJD) has not been reported. He had no history of surgery or blood transfusion, or a family history of prion disease. In June, 2001, aged 48 years, he had difficulty in writing Chinese characters. In October, 2001, he showed mental symptoms, such as irritability, personality changes, and memory impairment, followed by painful dysaesthesia in the legs, ataxia, dementia, and abnormal behaviour. Retrospective review of an MRI taken in August, 2002, showed slight hyperintensity in the thalamus. In January, 2003, he showed dementia, ataxia, and hyperreflexia. Brain MRI at that time showed symmetrical hyperintensity of the thalamus. Electroencephalogram (EEG) showed diffuse slowing, but no periodic synchronous discharges (PSD). The cerebrospinal fluid was positive for 14-3-3 protein. Analysis of the prion protein (PrP) gene showed no mutation, methionine/methionine at codon 129, and glutamic acid/glutamic acid at codon 219. He showed rapid deterioration of both motor and cognitive function.