Chorea: An Update on Genetics

Abstract

<b><i>Background:</i></b> Chorea may be present in a number of diseases including hereditary disorders. Major advances have occurred in our understanding of the genetic background of those disorders, and the present short review aims at highlighting the most salient ones. <b><i>Summary:</i></b> Chorea is one of the major manifestations of Huntington’s disease. However, there are a number of other diseases, in which chorea is present as well and their list is in constant increase thanks to the availability of advanced molecular genetic diagnostic techniques. Finding of new genes followed by the investigation of further cases with part of the phenotype first described often leads to the recognition of additional aspects of the disorders, thus widening the scope of investigation and management. Likewise, assessment of genetic variations associated with specific aspects of the phenotype, in a way similar to approaches established in nongenetic disorders, has improved our understanding of phenotype variation. Knowledge on genetic background of chorea has ameliorated our diagnostic approaches. Furthermore, it opens new therapeutic strategies aimed at modifying expression both of the genes primarily implicated as the ones involved in further phenotype modification. <b><i>Key messages:</i></b> Recent research on the genetic background of disorders with chorea has provided data, which can now better guide differential diagnostic investigations in practical ways. Furthermore, they provide avenues for research on the disease mechanisms opening the door for clinical therapeutic trials.