Evidence map›Paper›PMID 38669553›Full record

ReviewJournal of Huntington's disease2024

Clinical Review of Juvenile Huntington's Disease.

Mayke Oosterloo, Alexiane Touze, Lauren M Byrne, Jannis Achenbach, Hande Aksoy, Annabelle Coleman, Dawn Lammert, Martha Nance, Peggy Nopoulos, Ralf Reilmann and 7 more

Open access · bronzeAbstract readReview
In one paragraph

Review in Journal of Huntington's disease, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed, 1 pooled it
7.0field-weighted citation impact, top 2% of its field
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

21 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Review
  4. Article
  5. In Vivo Mapping of Catecholaminergic Loss and Iron Deposition in Huntington's Disease.Movement disorders : official journal of the Movement Disorder Society · 2026
    Article
  6. Article
  7. Article
  8. Observational
  9. Review
  10. Article
  11. Article
  12. Update on Genetic Chorea.European journal of neurology · 2025
    Review
  13. Article
  14. Article
  15. Review
  16. Article
  17. Repeat expansion disorders.Practical neurology · 2025
    Review
  18. Review
  19. Review
  20. Regulation ofInternational journal of molecular sciences · 2024
    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

17 authors at 9 institutions in 6 countries.

Mayke OosterlooDepartment of Neurology, Maastricht University Medical Center, Maastricht, The Netherlands.
Alexiane TouzeDepartment of Neurodegenerative Disease, UCL Huntington's Disease Centre, UCL Queen Square Institute of Neurology, University College London, London, UK.
Lauren M ByrneDepartment of Neurodegenerative Disease, UCL Huntington's Disease Centre, UCL Queen Square Institute of Neurology, University College London, London, UK.
Jannis AchenbachDepartment of Neurology, Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum, Germany.
Hande AksoyFaculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, The Netherlands.
Annabelle ColemanDepartment of Neurodegenerative Disease, UCL Huntington's Disease Centre, UCL Queen Square Institute of Neurology, University College London, London, UK.
Dawn LammertDepartment of Neurology, Division of Child Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Martha NanceStruthers Parkinson's Center, Minneapolis, MN, USA.
Peggy NopoulosDepartments of Psychiatry, Pediatrics, & Neurology, University of Iowa Carver College of Medicine, Iowa City, IA, USA.
Ralf ReilmannGeorge-Huntington-Institute & Department of Radiology, University of Muenster, Muenster, Germany.
Carsten SaftDepartment of Neurology, Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum, Germany.
Helen SantiniHuntington's Disease Association, England and Wales.
Ferdinando SquitieriCentre for Rare Neurological Diseases (CMRN), Italian League for Research on Huntington (LIRH) Foundation, Rome, Italy.
Sarah TabriziDepartment of Neurodegenerative Disease, UCL Huntington's Disease Centre, UCL Queen Square Institute of Neurology, University College London, London, UK.
Jean-Marc BurgunderNeurozentrum Siloah and Department of Neurology, Swiss HD Center, University of Bern, Bern, Switzerland.
Oliver QuarrellDepartment of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK.
Pediatric Huntington Disease Working Group of the European Huntington Disease Network
Huntington's Disease Association · GBMaastricht University · NLCasa Sollievo della Sofferenza · ITJohns Hopkins University · USUniversity of Bern · CHUniversity of Iowa · USMRC Prion Unit · GBSheffield Children's Hospital · GBSt. Josef-Hospital · DE

Funding

University of Iowa Hawkeye Intellectual and Developmental Disabilities Research Center (Hawk-IDDRC)P50HD103556 · NICHD · UNIVERSITY OF IOWA · PI EDWIN TED G. ABEL, Lane Strathearn · 2021 to 2026
$8.5M
NICHD NIH HHS P50 HD103556
6 · The paper itself

Abstract

Juvenile Huntington's disease (JHD) is rare. In the first decade of life speech difficulties, rigidity, and dystonia are common clinical motor symptoms, whereas onset in the second decade motor symptoms may sometimes resemble adult-onset Huntington's disease (AOHD). Cognitive decline is mostly detected by declining school performances. Behavioral symptoms in general do not differ from AOHD but may be confused with autism spectrum disorder or attention deficit hyperactivity disorder and lead to misdiagnosis and/or diagnostic delay. JHD specific features are epilepsy, ataxia, spasticity, pain, itching, and possibly liver steatosis. Disease progression of JHD is faster compared to AOHD and the disease duration is shorter, particularly in case of higher CAG repeat lengths. The diagnosis is based on clinical judgement in combination with a positive family history and/or DNA analysis after careful consideration. Repeat length in JHD is usually > 55 and caused by anticipation, usually via paternal transmission. There are no pharmacological and multidisciplinary guidelines for JHD treatment. Future perspectives for earlier diagnosis are better diagnostic markers such as qualitative MRI and neurofilament light in serum.

Indexed as

Huntington DiseaseAdolescentAge of OnsetChildDisease ProgressionHumans

Identifiers

PMID38669553
PMCPMC11307030
OpenAlexW4395677126

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

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.