title: 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.
authors.affiliation: Faculty of Biology, University of Belgrade, Belgrade, Yugoslavia.
authors.forename: Milica
authors.initials: M
authors.lastname: Keckarević
authors.forename: Dusanka
authors.initials: D
authors.lastname: Savić
authors.forename: Marina
authors.initials: M
authors.lastname: Svetel
authors.forename: Vladimir
authors.initials: V
authors.lastname: Kostić
authors.forename: Slobodanka
authors.initials: S
authors.lastname: Vukosavić
authors.forename: Stanka
authors.initials: S
authors.lastname: Romac
mesh_terms: D001921:Brain / Q000378:metabolism; D004252:DNA Mutational Analysis; D005293:Ferritins / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D006816:Huntington Disease / Q000235:genetics* / Q000378:metabolism; D007501:Iron / Q000378:metabolism; D008565:Membrane Proteins / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*; D011328:Prions / Q000235:genetics*; D015022:Yugoslavia
chemical_list: D008565:Membrane Proteins; D011328:Prions; C412507:junctophilin; D005293:Ferritins; D007501:Iron