Autoszomális domináns öröklodésu cerebellaris ataxiák

Translated title of the contribution: The autosomal dominant cerebellar ataxias are hereditary neurodegenerative diseases

Eniko Sáfrány, László Balikó, András Guseo, Bernadett Faragó, Béla Melegh

Research output: Contribution to journalReview article

Abstract

Even before a few decades ataxias were among the least understood neurological disorders but the clarification of their molecular background provides possibility for the accurate establishment of the diagnosis and gives a hand in the explanation of numberous extraordinary phenomena, like variable phenotypes in the same familiy. The cognition of the pathogenesis of spinocerebellar ataxias can grant a chance to the development of successful therapies instead of the present available merely symptomatic treatments. The rapid discovery of many genes and loci together with the segregation of ataxia subtypes can, however, cause inconvenience in the precise determination of the disorder. Our aim was to provide insight to the genetic background of these neurodegenerative diseases and also to give help in the correct diagnosis by the short description of the major ataxia subtypes.

Original languageHungarian
Pages (from-to)2125-2132
Number of pages8
JournalOrvosi hetilap
Volume148
Issue number45
DOIs
Publication statusPublished - Nov 11 2007

    Fingerprint

ASJC Scopus subject areas

  • Medicine(all)

Cite this