J Neurol Neurosurg Psychiatry 84:650-656 doi:10.1136/jnnp-2012-302532
  • Movement disorders
  • Review

The differential diagnosis of Huntington's disease-like syndromes: ‘red flags’ for the clinician

Open Access
  1. Kailash P Bhatia3
  1. 1Neuroscience & Trauma Centre, Barts and The London School of Medicine and Dentistry, Queen Mary University London, London, UK
  2. 2Queen Elizabeth Hospital, South London NHS Trust, Woolwich, London, UK
  3. 3Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, Queen Square, London, UK
  1. Correspondence to Dr Davide Martino, Blizard Institute, Neuroscience & Trauma Centre, Queen Mary University of London, 4 Newark Street, London E1 2AT, UK; d.martino{at}
  1. Contributors DM: conception and execution of the research project; writing of the first draft. MS and KB: execution of the research project; review and critique of the manuscript. DM: conception and design; acquisition of data; interpretation of data; drafting the article. MS: acquisition of data; critical revision for important intellectual content. KB: conception and design; critical revision for important intellectual content.

  • Received 3 June 2012
  • Revised 17 July 2012
  • Accepted 1 August 2012
  • Published Online First 19 September 2012


A growing number of progressive heredodegenerative conditions mimic the presentation of Huntington's disease (HD). Differentiating among these HD-like syndromes is necessary when a patient with a combination of movement disorders, cognitive decline, behavioural abnormalities and progressive disease course proves negative to the genetic testing for HD causative mutations, that is, IT15 gene trinucleotide-repeat expansion. The differential diagnosis of HD-like syndromes is complex and may lead to unnecessary and costly investigations. We propose here a guide to this differential diagnosis focusing on a limited number of clinical features (‘red flags’) that can be identified through accurate clinical examination, collection of historical data and a few routine ancillary investigations. These features include the ethnic background of the patient, the involvement of the facio-bucco-lingual and cervical district by the movement disorder, the co-occurrence of cerebellar features and seizures, the presence of peculiar gait patterns and eye movement abnormalities, and an atypical progression of illness. Additional help may derive from the cognitive–behavioural presentation of the patient, as well as by a restricted number of ancillary investigations, mainly MRI and routine blood tests. These red flags should be constantly updated as the phenotypic characterisation and identification of more reliable diagnostic markers for HD-like syndromes progress over the following years.


  • Competing interests None.

  • Patient consent Obtained.

  • Provenance and peer review Commissioned; externally peer reviewed.

  • Open Access This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 3.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See:

This is an open-access article distributed under the terms of the Creative Commons Attribution Non-commercial License, which permits use, distribution, and reproduction in any medium, provided the original work is properly cited, the use is non commercial and is otherwise in compliance with the license. See: and

Open Access

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