Background:

Prion disease is a rare entity, with an estimated prevalence ranging from 0.32 to 1.73 cases per million individuals. The familial form corresponds to 10% of all cases, with an age of onset between 40 and 50 years. To date, over forty germline mutations have been described, with the most frequent being the c.598G>Ap.Glu200Lys (E200K) mutation.

Case presentation:

A 41-year-old male presented in November 2021 with progressive memory impairment. By April 2022, he developed tremors and balance disturbances. Neurological examination revealed features consistent with dementia, pancerebellar and parkinsonian syndromes. Magnetic resonance imaging showed symmetrical and bilateral hyperintensities in the basal ganglia. Given these findings and familial factors, genetic sequencing of the PrP gene was performed, revealing a mutation in 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 possibility in individuals with rapidly progressing dementia. Although there are both clinical and paraclinical diagnostic criteria, DNA sequencing is essential for identifying de novo or autosomal dominant hereditary mutations.

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