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Huntington’s Disease Look-alikes 

Huntington’s Disease Look-alikes
Huntington’s Disease Look-alikes

Edward J. Wild

and Sarah J. Tabrizi

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date: 29 November 2020

Around 1 per cent of patients in whom Huntington’s disease (HD) is suspected clinically lack the genetic mutation that causes HD. Such patients, referred to as having HD look-alike syndromes, HD phenocopies, or HD-like disorders, present a diagnostic challenge. This chapter offers a definition of HD look-alikes and reviews the causes and features of HD look-alike syndromes, including HD-like syndromes 1, 2 and 3, familial prion disease, , spinocerebellar ataxias 17, 1, 2 and 3, dentatorubro-pallidoluysian atrophy (DRPLA), brain iron accumulation disorders including pantothenate kinase associated neurodegeneration (PKAN) and neuroferritinopathy, choreoacanthocytosis, MacLeod syndrome, Wilson’s disease, Friedreich’s ataxia, mitochondrial disease, and benign hereditary chorea, and considers possible acquired causes. The evidence for the relative frequencies of each genetic cause is reviewed. The yield from exhaustive genetic investigation of such patients is only 2 per cent, which is important when it comes to genetic counselling. We propose a rational framework for the investigation of HD look-alike patients based on genetic frequencies and associated clinical features. The exclusion of treatable causes is a top priority. Expert genetic counselling and multidisciplinary care via a neurogenetics clinic remain the mainstay of care for such patients.

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