Predominant right temporal and frontal brain atrophy and progressive behavioral dementia. A case of prion gene mutation (PRNP).

INTRODUCTION

Frontotemporal dementia (FTD) is a rare and often hereditary type of dementia, usually developing under the age of 65 years. Mutations in the gene encoding the prion protein (PRNP), typically resulting in Creutzfeldt-Jakob disease, are an extremely rare cause of FTD phenotype. The clinical spectrum of this genetic form of FTD has not been fully elucidated, and no case carrying a PRNP gene mutation has been previously described in the Greek population.

CASE REPORT: This case report describes a patient with phenotype of probable behavioral variant frontotemporal dementia (bvFTD) with positive family history of dementia.A mutation in the prion gene (PRNP) is identified as the genetic cause of the behavioral FTD phenotype of the patient.

CONCLUSION

Heterozygous c.623G>A (p.Arg208His) genotype may be responsible for FTD phenotype. This case shows the necessity of genetic testing for possible mutations in the prion gene in patients with bvFTD and positive family history of dementia.