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

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.

• Authors: Felix Gövert, Susanne A Schneider
• Journal: Current opinion in neurology (Curr Opin Neurol) Vol. 26 Issue 4 Pg. 420-7 (Aug 2013) ISSN: 1473-6551 [Electronic] England
• PMID: 23812307 (Publication Type: Journal Article, Review)

Chemical References

• Membrane Proteins
• Prions
• TATA-Box Binding Protein
• TBP protein, human
• junctophilin

Topics

• Genetic Predisposition to Disease (genetics)
• Heredodegenerative Disorders, Nervous System (classification, genetics, physiopathology)
• Humans
• Huntington Disease (classification, genetics, physiopathology)
• Iron Metabolism Disorders (genetics)
• Membrane Proteins (genetics)
• Mutation (genetics)
• Myoclonic Epilepsies, Progressive (genetics)
• Neuroaxonal Dystrophies (genetics)
• Phenotype
• Prions (genetics)
• Syndrome
• TATA-Box Binding Protein (genetics)