Evidence map›Paper›PMID 31340844›Full record

ReviewActa neuropathologica communications2019

Cross-examining candidate genes implicated in multiple system atrophy.

Jared S Katzeff, Katherine Phan, Sivaraman Purushothuman, Glenda M Halliday, Woojin Scott Kim

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

Review in Acta neuropathologica communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
2.8field-weighted citation impact, top 9% 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

12 citing papers in PubMed, 28 citations in OpenAlex.

  1. Article
  2. Review
  3. Review
  4. Article
  5. Review
  6. Review
  7. Review
  8. Review
  9. Signs of early cellular dysfunction in multiple system atrophy.Neuropathology and applied neurobiology · 2021
    Article
  10. Review
  11. Article
  12. Article
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

5 authors at 1 institution in 1 country.

Jared S KatzeffBrain and Mind Centre & Central Clinical School, The University of Sydney, Sydney, NSW, Australia.
Katherine PhanBrain and Mind Centre & Central Clinical School, The University of Sydney, Sydney, NSW, Australia.
Sivaraman PurushothumanBrain and Mind Centre & Central Clinical School, The University of Sydney, Sydney, NSW, Australia.
Glenda M HallidayBrain and Mind Centre & Central Clinical School, The University of Sydney, Sydney, NSW, Australia.
Woojin Scott KimBrain and Mind Centre & Central Clinical School, The University of Sydney, Sydney, NSW, Australia. woojin.kim@sydney.edu.au.ORCID 0000-0002-4707-933X
The University of Sydney · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Multiple system atrophy (MSA) is a devastating neurodegenerative disease characterized by the clinical triad of parkinsonism, cerebellar ataxia and autonomic failure, impacting on striatonigral, olivopontocerebellar and autonomic systems. At early stage of the disease, the clinical symptoms of MSA can overlap with those of Parkinson's disease (PD). The key pathological hallmark of MSA is the presence of glial cytoplasmic inclusions (GCI) in oligodendrocytes. GCI comprise insoluble proteinaceous filaments composed chiefly of α-synuclein aggregates, and therefore MSA is regarded as an α-synucleinopathy along with PD and dementia with Lewy bodies. The etiology of MSA is unknown, and the pathogenesis of MSA is still largely speculative. Much data suggests that MSA is a sporadic disease, although some emerging evidence suggests rare genetic variants increase susceptibility. Currently, there is no general consensus on the susceptibility genes as there have been differences due to geographical distribution or ethnicity. Furthermore, many of the reported studies have been conducted on patients that were only clinically diagnosed without pathological verification. The purpose of this review is to bring together available evidence to cross-examine the susceptibility genes and genetic pathomechanisms implicated in MSA. We explore the possible involvement of the SNCA, COQ2, MAPT, GBA1, LRRK2 and C9orf72 genes in MSA pathogenesis, highlight the under-explored areas of MSA genetics, and discuss future directions of research in MSA.

Indexed as

Alkyl and Aryl Transferasesalpha-SynucleinBrainC9orf72 ProteinGenetic Predisposition to DiseaseGlucosylceramidaseHumansLeucine-Rich Repeat Serine-Threonine Protein Kinase-2Multiple System AtrophyNeuronstau Proteins4-hydroxybenzoate polyprenyltransferaseAlkyl and Aryl Transferasesalpha-SynucleinC9orf72 ProteinC9orf72 protein, humanGBA protein, humanGlucosylceramidaseLeucine-Rich Repeat Serine-Threonine Protein Kinase-2LRRK2 protein, humanMAPT protein, humanSNCA protein, humantau ProteinsCOQ2GWASMultiple system atrophyParkinson’s diseaseSusceptibility genesα-Synuclein

Identifiers

PMID31340844
PMCPMC6651992
OpenAlexW2964183846

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.