Familial Creutzfeld-Jakob disease, compatible with PRNP c.532G>A (p.Asp178sn) gene mutation

Abstract

Background: Prion disease is a rare entity; a prevalence between 0.32-1.73 per million people is estimated. The familial form corresponds to 10% of the total cases, with a peak of presentation between 40-50 years. Over fourty known germline mutations have been described, the most frequent being c.598G>Ap.Glu200Lys (E200K). Case presentation: A 41-year-old man who began in November 2021 with progressive memory impairment. In April 2022 tremor was added in all four limbs, with balance disturbances. A neurological examination with data compatible with dementia, pancerebellar and parkinsonian syndromes. Magnetic resonance imaging showed symmetrical and bilateral hyperintensities of the basal ganglia. Due to the findings and family history, a sequencing search for the PrP gene was performed, resulting in a mutation of the PrPSc gene c.532G>A (p. Asp178sn), compatible with a familial variant of Creutzfeldt Jacob Disease. Conclusions: Prionopathy should be considered as a diagnosis to rule out in people with rapidly progressive dementia. Although there are both clinical and paraclinical diagnostic criteria, diagnosis through DNA sequencing is necessary to determine de novo or autosomal dominant hereditary mutations.