Evidence map›Paper›PMID 21827905›Full record

ReviewHandbook of clinical neurology2012

Machado-Joseph disease/spinocerebellar ataxia type 3.

Henry Paulson

Abstract readReview
In one paragraph

Review in Handbook of clinical neurology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 104 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
104citing papers in PubMed, 6 pooled it
8.5field-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

104 citing papers in PubMed, 6 syntheses or guidelines pooled it, 174 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Pooled it
  6. Pooled it
  7. Trial
  8. Article
  9. Journal of traditional and complementary medicine · 2026
    Article
  10. bioRxiv : the preprint server for biology · 2026
    Article
  11. Article
  12. Article
  13. Observational
  14. Article
  15. Article
  16. Another common genetic ataxia in South Korea: Spinocerebellar ataxia 36.European journal of human genetics : EJHG · 2026
    Article
  17. Review
  18. Article
  19. Article
  20. Review

44 more citing papers are in PubMed but not listed here.

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

1 author at 1 institution in 1 country.

Henry PaulsonDepartment of Neurology, University of Michigan, Ann Arbor, MI 48109-2200, USA. henryp@umich.edu
University of Michigan–Ann Arbor · US

Funding

Mechanisms of Polyglutamine NeurodegenerationR01NS038712 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI PAULSON, HENRY L · 2000 to 2019
$8.1M
NINDS NIH HHS NS038712NINDS NIH HHS R01 NS038712
6 · The paper itself

Abstract

Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), may be the most common dominantly inherited ataxia in the world. Here I will review historical, clinical, neuropathological, genetic, and pathogenic features of MJD, and finish with a brief discussion of present, and possible future, treatment for this currently incurable disorder. Like many other dominantly inherited ataxias, MJD/SCA3 shows remarkable clinical heterogeneity, reflecting the underlying genetic defect: an unstable CAG trinucleotide repeat that varies in size among affected persons. This pathogenic repeat in MJD/SCA3 encodes an expanded tract of the amino acid glutamine in the disease protein, which is known as ataxin-3. MJD/SCA3 is one of nine identified polyglutamine neurodegenerative diseases which share features of pathogenesis centered on protein misfolding and accumulation. The specific properties of MJD/SCA3 and its disease protein are discussed in light of what is known about the entire class of polyglutamine diseases.

Indexed as

Ataxin-3HumansMachado-Joseph DiseaseNerve Tissue ProteinsNuclear ProteinsProteostasis DeficienciesRepressor ProteinsAtaxin-3ATXN3 protein, humanNerve Tissue ProteinsNuclear ProteinsRepressor Proteins

Identifiers

PMID21827905
PMCPMC3568768
OpenAlexW1519439387

What OpenQuestion holds

Textmetadata
LicenceTDM
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.