[The autosomal dominant cerebellar ataxias are hereditary neurodegenerative diseases].
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 numerous extraordinary phenomena, like variable phenotypes in the same family. 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.
Sáfrány
Eniko
E
Pécsi Tudományegyetem, Altalános Orvostudományi Kar, Orvosi Genetikai és Gyermekfejlodéstani Intézet, Pécs.
Balikó
László
L
Guseo
András
A
Faragó
Bernadett
B
Melegh
Béla
B
D002524:Cerebellar Ataxia / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D020271:Heredodegenerative Disorders, Nervous System / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D010641:Phenotype; D018911:Trinucleotide Repeats