Yugoslav HD phenocopies analyzed on the presence of mutations in PrP, ferritin, and Jp-3 genes.
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.
Keckarević
Milica
M
Faculty of Biology, University of Belgrade, Belgrade, Yugoslavia.
Savić
Dusanka
D
Svetel
Marina
M
Kostić
Vladimir
V
Vukosavić
Slobodanka
S
Romac
Stanka
S
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
D008565:Membrane Proteins; D011328:Prions; C412507:junctophilin; D005293:Ferritins; D007501:Iron