Ontology highlight
ABSTRACT:
SUBMITTER: Vittori A
PROVIDER: S-EPMC4030768 | biostudies-literature | 2014 Jun
REPOSITORIES: biostudies-literature
Vittori Angelica A Breda Carlo C Repici Mariaelena M Orth Michael M Roos Raymund A C RA Outeiro Tiago F TF Giorgini Flaviano F Hollox Edward J EJ
Human molecular genetics 20140122 12
Huntington's disease (HD) is a devastating neurodegenerative disorder which is inherited in an autosomal dominant manner. HD is caused by a trinucleotide CAG repeat expansion that encodes a polyglutamine stretch in the huntingtin (HTT) protein. Mutant HTT expression leads to a myriad of cellular dysfunctions culminating in neuronal loss and consequent motor, cognitive and psychiatric disturbances in HD patients. The length of the CAG repeat is inversely correlated with age of onset (AO) in HD pa ...[more]