Huntington's Disease and Huntington's Disease-like Syndromes

An Overview

Felix Gövert and Susanne A. Schneider


Curr Opin Neurol. 2013;26(4):420-427. 

In This Article


When clinicians are confronted with a patient with a predominantly choreic syndrome in whom secondary causes have been excluded and Huntington's disease gene mutations are absent, rarer conditions come into consideration including the HDL syndromes. Some may closely resemble Huntington's disease, others may be complicated by involvement of other neuronal systems and organs otherwise atypical for Huntington's disease which can serve as red flags. A thorough history of disease onset and disease course, including preceding subtle symptoms and concomitant illnesses, but also information about ethnic background and family history will be pivotal to guide further work-up. Blood tests, neuroimaging, electrophysiology as well as specific function tests (e.g. protein assays) will help to support or exclude putative diagnoses. Genetic testing is available for many of the discussed disorders and will confirm the diagnosis. Interdisciplinary counselling should be offered to patients and their families.[83]

Treatment of Huntington's disease and HDL disorders remains symptomatic. Dopamine-depleting agents (such as tetrabenazine) and (typical) atypical neuroleptics (including haloperidol and olanzapine, clozapine and quetiapine) are drugs of choice. GABA-ergic agents (clonazepam, gabapentin and valproate) can be used as adjunctive therapy. Deep brain stimulation has been used in selected cases. Therapy should also address accompanying symptoms (depression etc.) and supportive treatments (physiotherapy, speech therapy etc.) should be offered.