Facteur génétique et variabilité clinique dans la maladie de Huntington

Huntington disease is an inherited neurological disorder that has been paradigmatic for a number of situations faced by late adult onset conditions. The huntingtin gene HTT, whose mutation is responsible for 90% of HD phenotypes contains a trinucleotide (CAG) repeat in its first exon; the mutation consists of an abnormal expansion of the repeat beyond a threshold of 35 units. Huntington disease expansion carriers present different phases during its lifespan: premanifest, prodromal and manifest stage. The study of these different stages allowed to identify imaging features that change over time, significantly enough and even in the premanifest stages, to build orphan treatment designs on this outcome. Knowledge of pathological, the normal huntingtine, and its relation to extraneurologial manifestation of the disease are important to guide future attempts to treat the disease.