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Curr Opin Neurol. 2013 Aug;26(4):420-7. doi: 10.1097/WCO.0b013e3283632d90.

Huntington's disease and Huntington's disease-like syndromes: an overview.

Author information

1
Department of Neurology, Christian-Albrechts-University Kiel, University-Hospital-Schleswig-Holstein, Kiel Campus, Schittenhelmstrasse 10, Kiel, Germany.

Abstract

PURPOSE OF REVIEW:

The differential diagnosis of chorea syndromes may be complex and includes various genetic disorders such as Huntington's disease and mimicking disorders called Huntington's disease-like (HDL) phenotypes. To familiarize clinicians with these (in some cases very rare) conditions we will summarize the main characteristics.

RECENT FINDINGS:

HDL disorders are rare and account for about 1% of cases presenting with a Huntington's disease phenotype. They share overlapping clinical features, so making the diagnosis purely on clinical grounds may be challenging, however presence of certain characteristics may be a clue (e.g. prominent orofacial involvement in neuroferritinopathy etc.), Information of ethnic descent will also guide genetic work-up [HDL2 in Black Africans; dentatorubral-pallidoluysian atrophy (DRPLA) in Japanese etc.], Huntington's disease, the classical HDL disorders (except HDL3) and DRPLA are repeat disorders with anticipation effect and age-dependent phenotype in some, but genetic underpinnings may be more complicated in the other chorea syndromes.

SUMMARY:

With advances in genetics more and more rare diseases are disentangled, allowing molecular diagnoses in a growing number of choreic patients. Hopefully, with better understanding of their pathophysiology we are moving towards mechanistic therapies.

PMID:
23812307
DOI:
10.1097/WCO.0b013e3283632d90
[Indexed for MEDLINE]

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