Evidence map›Paper›PMID 31061838›Full record

ArticleMovement disorders clinical practice2019

Comparison of the Huntington's Disease like 2 and Huntington's Disease Clinical Phenotypes.

David G Anderson, Aline Ferreira-Correia, Filipe B Rodrigues, N Ahmad Aziz, Jonathan Carr, Edward J Wild, Russell L Margolis, Amanda Krause

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PubMed Full text at PMC Publisher
In one paragraph

Article in Movement disorders clinical practice, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

15 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Review
  4. Huntington's Disease-Like 2 in a European Caucasian Patient.Movement disorders clinical practice · 2025
    Article
  5. Review
  6. Repeat expansion disorders.Practical neurology · 2025
    Review
  7. Article
  8. Review
  9. The First Case of Huntington's Disease like 2 in Mali, West Africa.Tremor and other hyperkinetic movements (New York, N.Y.) · 2024
    Article
  10. Review
  11. Review
  12. Article
  13. Review
  14. Movement Disorders and Hematologic Diseases.Movement disorders clinical practice · 2021
    Review
  15. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

David G AndersonThe University of the Witwatersrand Donald Gordon Medical Centre Neurology Johannesburg South Africa.ORCID https://orcid.org/0000-0002-2831-6424
Aline Ferreira-CorreiaDepartment of Psychology School of Human and Community Development, University of the Witwatersrand. Johannesburg South Africa.
Filipe B RodriguesUCL Huntington's Disease Centre University College London UK.ORCID https://orcid.org/0000-0002-5567-7938
N Ahmad AzizGerman Center for Neurodegenerative Diseases (DZNE) Bonn Germany.
Jonathan CarrDivision of Neurology, Department of Medicine University of Stellenbosch Cape Town South Africa.
Edward J WildUCL Huntington's Disease Centre University College London UK.
Russell L MargolisDepartments of Psychiatry and Neurology, Program in Cellular and Molecular Medicine Johns Hopkins University School of Medicine Baltimore MD USA.
Amanda KrauseDivision of Human Genetics National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, The University of the Witwatersrand Johannesburg South Africa.

Funding

Medical Research Council MR/M008592/1
6 · The paper itself

Abstract

backgroundHuntington's disease like 2 (HDL2) is the most common Huntington's disease (HD) phenocopy in many countries and described as the phenocopy with the greatest resemblance to HD. The current clinical description of HDL2 is based on retrospective data. It is unknown whether HDL2 has clinical features that distinguish it from HD.

objectiveTo describe the HDL2 phenotype and compare it to HD systematically.

methodsA blinded cross-sectional design was used to compare the HDL2 (n = 15) and HD (n = 13) phenotypes. African ancestry participants underwent assessments, including the Unified Huntington's Disease Rating Scale (UHDRS). The UHDRS motor component was video recorded and evaluated by blinded experts and the inter-rater reliability calculated.

resultsBoth groups were homogeneous in terms of demographics and disease characteristics. However, HDL2 patients presented three years earlier with more prominent dysarthria and dystonia. Raters could not distinguish between the two diseases with a high level of agreement. No significant differences in the TMS between HDL2 and HD were found. In both disorders, disease duration correlated with motor scores, with the exception of chorea. Psychiatric and cognitive scores were not significantly different between the groups.

conclusionsThe HDL2 phenotype is similar to HD and is initially characterized by dementia, chorea, and oculomotor abnormalities, progressing to a rigid and bradykinetic state, suggesting the UHDRS is useful to monitor disease progression in HDL2. Although HDL2 patients scored higher on some UHDRS domains, this did not differentiate between the two diseases; it may however be emerging evidence of HDL2 having a more severe clinical phenotype.

Indexed as

choreaHuntington's diseaseHuntington's disease like 2Huntington's disease phenocopyphenotype

Identifiers

PMID31061838
PMCPMC6476590

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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.