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  • Title: Differential diagnosis of Huntington's disease: what the clinician should know.
    Author: Cardoso F.
    Journal: Neurodegener Dis Manag; 2014; 4(1):67-72. PubMed ID: 24640980.
    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.
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