ArticleJournal of neurology, neurosurgery, and psychiatry2013
The differential diagnosis of Huntington's disease-like syndromes: 'red flags' for the clinician.
Article in Journal of neurology, neurosurgery, and psychiatry, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 90 citations in OpenAlex.
- Current knowledge of Huntington's disease-like 2 genetic testing, clinical presentation, and patient experiences: A systematic review.Journal of Huntington's disease · 2026Pooled it
- Diagnostic value of genetic testing in chorea: a retrospective monocentric study.Journal of neurology · 2026Article
- Improving the Clinical Diagnostic Criteria for Genetically Confirmed Adult-Onset Huntington Disease: Considering Nonmotor Presentations.Neurology. Clinical practice · 2025Article
- Dancing, Lurching and Swaying: An Indian Case of Dentatorubral-Pallidoluysian Atrophy.Movement disorders clinical practice · 2024Article
- Exploring Huntington's Disease Diagnosis via Artificial Intelligence Models: A Comprehensive Review.Diagnostics (Basel, Switzerland) · 2023Review
- Oculomotor Apraxia as an Early Presenting Sign of Juvenile-Onset Huntington's Disease.Movement disorders clinical practice · 2023Article
- The enduring enigma of sporadic chorea: A single center case series.Tremor and other hyperkinetic movements (New York, N.Y.) · 2023Article
- Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy.Frontiers in neurology · 2022Article
- An unusual presentation of Huntington's disease.Clinical case reports · 2021Article
- Review of Hereditary and Acquired Rare Choreas.Tremor and other hyperkinetic movements (New York, N.Y.) · 2020Review
- Choreo-Athetosis and Ataxia as Leading Features in a Case of Erdheim-Chester Disease.Movement disorders clinical practice · 2020Article
- Genetics of Movement Disorders and the Practicing Clinician; Who and What to Test for?Current neurology and neuroscience reports · 2018Review
- Alteration of GABAergic neurotransmission in Huntington's disease.CNS neuroscience & therapeutics · 2018Review
- Treatable inherited rare movement disorders.Movement disorders : official journal of the Movement Disorder Society · 2018Review
- A Case of Previously Unsuspected Huntington Disease Diagnosed at Autopsy.Academic forensic pathology · 2017Article
- Improved high sensitivity screen for Huntington disease using a one-step triplet-primed PCR and melting curve assay.PloS one · 2017Article
- What is new in tics, dystonia and chorea?Clinical medicine (London, England) · 2016Review
- Recent advances in genetics of chorea.Current opinion in neurology · 2016Review
- Comorbid epilepsy in Finnish patients with adult-onset Huntington's disease.BMC neurology · 2016Article
- Overstimulation of the inhibitory nervous system plays a role in the pathogenesis of neuromuscular and neurological diseases: a novel hypothesis.F1000Research · 2016Article
Corrections and comments
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Authors and funding
3 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.