Evidence map›Paper›PMID 29226019›Full record

ArticleTremor and other hyperkinetic movements (New York, N.Y.)2017

Absence of Acanthocytosis in Huntington's Disease-like 2: A Prospective Comparison with Huntington's Disease.

David G Anderson, Sergio Carmona, Kubendran Naidoo, Theresa L Coetzer, Jonathan Carr, Dobrila D Rudnicki, Ruth H Walker, Russell L Margolis, Amanda Krause

Open access · greenAbstract readComparative Study
PubMed Full text at PMC Publisher
In one paragraph

Article in Tremor and other hyperkinetic movements (New York, N.Y.), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 pooled it
0.5field-weighted citation impact, top 41% 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

7 citing papers in PubMed, 1 synthesis or guideline pooled it, 7 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Article
  4. "Neuroacanthocytosis" - Overdue for a Taxonomic Update.Tremor and other hyperkinetic movements (New York, N.Y.) · 2021
    Article
  5. Article
  6. Article
  7. Neuroacanthocytosis Syndromes: The Clinical Perspective.Contact (Thousand Oaks (Ventura County, Calif.))
    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

9 authors at 5 institutions in 2 countries.

David G AndersonDepartment of Neurology, The University of the Witwatersrand Donald Gordon Medical Center, Johannesburg, South Africa.
Sergio CarmonaDepartment of Molecular Medicine and Haematology, University of the Witwatersrand, Johannesburg, South Africa.
Kubendran NaidooDepartment of Molecular Medicine and Haematology, University of the Witwatersrand, Johannesburg, South Africa.
Theresa L CoetzerDepartment of Molecular Medicine and Haematology, University of the Witwatersrand, Johannesburg, South Africa.
Jonathan CarrDepartment of Neurology, University of Stellenbosch, Cape Town, South Africa.
Dobrila D RudnickiOffice of Special Initiatives, National Center for Advancing Translational Sciences, NIH, Bethesda, MD, USA.
Ruth H WalkerDepartment of Neurology, James J. Peters Veterans Affairs Medical Center, New York, NY, USA.
Russell L MargolisDepartments of Psychiatry and Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Amanda KrauseDivision of Human Genetics, University of the Witwatersrand, Johannesburg, South Africa.
University of the Witwatersrand · ZAJohns Hopkins University · USIcahn School of Medicine at Mount Sinai · USNational Health Laboratory Service · ZAStellenbosch University · ZA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Huntington's Disease-like 2 (HDL2) is classified as a neuroacanthocytosis; however, this remains unverified. We aim to determine if acanthocytes are present in HDL2 and whether acanthocytes can differentiate HDL2 from Huntington's disease (HD). Methods: We prospectively compared 13 HD and 12 HDL2 cases against 21 unaffected controls in Johannesburg. Blood smears were prepared using international standards and reviewed by at least two blinded reviewers. An acanthocytosis rate of greater than 1.2% in the dry smear or greater than 3.7% in the wet smear was designated a priori as the threshold for clinical significance based on previously established standards. Flow cytometry was performed on all but four of the cases. Red cell membrane protein analysis was performed on all participants. Results: There were 12 HDL2, 13 HD, and 21 controls enrolled. None of the HD or HDL2 participants had defined acanthocytosis or other morphological abnormalities. None of the HD or HDL2 cases had evidence of an abnormal band 3. Discussion: Acanthocytosis was not identified in either HDL2 or HD in our patient population. Our results, based on the first prospective study of acanthocytes in HDL2 or HD, suggest that screening for acanthocytes will not help establish the diagnosis of HD or HDL2, nor differentiate between the two disorders and raises the question if HDL2 should be placed within the neuroacanthocytosis syndromes.

Indexed as

AcanthocytesAbetalipoproteinemiaAdultAgedBlood Cell CountChoreaCognition DisordersDementiaFlow CytometryHeredodegenerative Disorders, Nervous SystemHumansHuntington DiseaseMiddle AgedProspective StudiesYoung AdultacanthocyteschoreaHuntington’s diseaseHuntington’s disease-like 2

Identifiers

PMID29226019
PMCPMC5721130
OpenAlexW2774396429

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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 Socratic graph.