Differential diagnosis of Huntington's disease: what the clinician should know.

Abstract

Huntington's disease (HD), an autosomal-dominant illness caused by an expansion of the CAG repeats on the short arm of chromosome 4, is clinically characterized by a combination of movement disorders, cognitive decline and behavioral changes. HD accounts for 90-99% of patients who present with this clinical picture. The remaining patients that are negative for the HD genetic mutation are said to have HD phenocopies. Autosomal-dominant diseases that can mimic HD are HD-like 2, C9orf72 mutations, spinocerebellar ataxia type 2, spinocerebellar ataxia type 17 (HD-like 4), benign hereditary chorea, neuroferritinopathy (neurodegeneration with brain iron accumulation type 3), dentatorubropallidoluysian atrophy and HD-like 1. There are also autosomal-recessive choreas that can be HD phenocopies: Friedreich's ataxia, neuroacanthocytosis, several forms of neurodegeneration with brain iron accumulation, ataxia telangiectasia, HD-like 3 and ataxia with oculomotor apraxia. Among X‑linked conditions, McLeod syndrome can mimic the clinical features of HD. Although less frequently, sporadic conditions, such as tardive dyskinesia and non-Wilsonian hepatolenticular degeneration, can also mimic HD.

• Authors: Francisco Cardoso
• Journal: Neurodegenerative disease management (Neurodegener Dis Manag) Vol. 4 Issue 1 Pg. 67-72 ( 2014) ISSN: 1758-2032 [Electronic] England
• PMID: 24640980 (Publication Type: Journal Article)

Topics

• Diagnosis, Differential
• Genes, Dominant
• Genes, Recessive
• Genes, X-Linked
• Genetic Testing
• Humans
• Huntington Disease (diagnosis, epidemiology, genetics, physiopathology)
• Phenotype