Description

Scientific background

In 90% of patients with choreatic movement disorder of genetic origin, a pathogenic CAG triplet repeat expansion in the HTT gene can be detected. For the remaining 10% with no evidence of a pathological HTT-CAG triplet repeat expansion, a differential diagnosis of “chorea-Huntington-like disorders”, clinically difficult or impossible to differentiate, can be clarified by comprehensive gene panel testing. For some of the listed genes, the presence of a repeat expansion is clarified by PCR and subsequent capillary electrophoresis (fragment length analysis).

References

Mencacci et Carecchio 2016, Curr Opin Neurol 29:486 / Hensman Mosset et al. 2014, Neurology 82:292 / Nguyen 2013, MedGen 25:223 / Martino et al. 2013, Journal of Neurol, Neurosurg & Psych 84:650