Yugoslav HD Phenocopies Analyzed on the Presence of Mutations in Prp, Ferritin, and Jp-3 Genes

Abstract

Huntington disease (HD) is a well-defined autosomal dominant neurodegenerative disease caused by CAG repeat expansions in HD gene. There are a significant number of HD cases where this mutation was not found and such cases are named HD-like phenotype (HDL). This article reports 48 patients with HDL phenotype. Patients were analyzed on the presence of mutations in prion (PrP), ferritin and junctophilin-3 (JP-3) genes. None of the patients showed the presence of the mutation in analyzed genes. This could suggest that there is some other gene/genes where the mutation can cause the disease with clinical features of HD.

Keywords:

• disease
• ferritin
• junctophilin
• mutation
• phenocopy
• prion