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Familial transmissible spongiform encephalopathies comprise about 14% of all cases of transmissible spongiform encephalopathy in humans. We report on a patient with a definite diagnosis of familial Creutzfeldt–Jakob disease with an insertional mutation consisting of seven extra octapeptide repeats between codons 51 and 91 in the PRNP gene, associated with a genotype homozygotic for methionine at codon 129 and a novel coding change of the inserted octapeptide region.
A Chinese woman developed forgetfulness at the age of 44 years, which progressed into memory deterioration 2 years later. At age 48 years, she developed gait disturbance and was admitted to hospital. On neurological examination she presented with mild dysarthria, intellectual deterioration and cognitive dysfunction. All her extremities showed hypertonia and ataxia, and no pathological reflexes were elicited. Her general health condition was good, except for the narrowed interpalpebral fissure dimension in her left eye and poor visual acuity since childhood.
A general brain magnetic resonance image showed no remarkable changes. The first electroencephalogram showed slow wave …