Evidence map›Paper›PMID 29124790›Full record

ReviewMovement disorders : official journal of the Movement Disorder Society2017

Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.

Susanne A Schneider, Roy N Alcalay

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

Review in Movement disorders : official journal of the Movement Disorder Society, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 194 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
194citing papers in PubMed, 1 pooled it
18.8field-weighted citation impact, top 1% 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

194 citing papers in PubMed, 1 synthesis or guideline pooled it, 331 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. Article
  5. Review
  6. Article
  7. Review
  8. Article
  9. Review
  10. Rethinking Mitochondrial Parkinson's Disease in the α-Synuclein Seed Amplification Assays Era.Movement disorders : official journal of the Movement Disorder Society · 2026
    Article
  11. Seeing Invisible Oligomers: Rethinking α-Synuclein Pathology Through Proximity Ligation Assay.Movement disorders : official journal of the Movement Disorder Society · 2026
    Review
  12. Review
  13. Review
  14. Lack of Cerebrospinal Fluid α-Synuclein Seeding in VPS35 D620N- and LRRK2 Y1699C-Linked Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2026
    Article
  15. Review
  16. Review
  17. Review
  18. Article
  19. Review
  20. Article

134 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

2 authors at 2 institutions in 2 countries.

Susanne A SchneiderDepartment of Neurology, Ludwig-Maximilians-University of München, Munich, Germany.
Roy N AlcalayDepartment of Neurology, Columbia University Medical Center, New York, New York, USA.
Columbia University Irving Medical Center · USLudwig-Maximilians-Universität München · DE

Funding

The role of glucocerebrosidase in Parkinson's diseaseK02NS080915 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ALCALAY, ROY · 2012 to 2016
$905k
NINDS NIH HHS K02 NS080915
6 · The paper itself

Abstract

Clinical-pathological studies remain the gold-standard for the diagnosis of Parkinson's disease (PD). However, mounting data from genetic PD autopsies challenge the diagnosis of PD based on Lewy body pathology. Most of the confirmed genetic risks for PD show heterogenous neuropathology, even within kindreds, which may or may not include Lewy body pathology. We review the literature of genetic PD autopsies from cases with molecularly confirmed PD or parkinsonism and summarize main findings on SNCA (n = 25), Parkin (n = 20, 17 bi-allelic and 3 heterozygotes), PINK1 (n = 5, 1 bi-allelic and 4 heterozygotes), DJ-1 (n = 1), LRRK2 (n = 55), GBA (n = 10 Gaucher disease patients with parkinsonism), DNAJC13, GCH1, ATP13A2, PLA2G6 (n = 8 patients, 2 with PD), MPAN (n = 2), FBXO7, RAB39B, and ATXN2 (SCA2), as well as on 22q deletion syndrome (n = 3). Findings from autopsies of heterozygous mutation carriers of genes that are traditionally considered recessively inherited are also discussed. Lewy bodies may be present in syndromes clinically distinctive from PD (eg, MPAN-related neurodegeneration) and absent in patients with clinical PD syndrome (eg, LRRK2-PD or Parkin-PD). Therefore, the authors can conclude that the presence of Lewy bodies are not specific to the diagnosis of PD and that PD can be diagnosed even in the absence of Lewy body pathology. Interventions that reduce alpha-synuclein load may be more justified in SNCA-PD or GBA-PD than in other genetic forms of PD. The number of reported genetic PD autopsies remains small, and there are limited genotype-clinical-pathological-phenotype studies. Therefore, larger series of autopsies from genetic PD patients are required. © 2017 International Parkinson and Movement Disorder Society.

Indexed as

Parkinsonian Disordersalpha-SynucleinHumansalpha-SynucleinSNCA protein, humanbrain pathologyGenetic Parkinson's diseasegeno-pathological correlationLewy bodypostmortem

Identifiers

PMID29124790
PMCPMC5726430
OpenAlexW2767687660

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.