Evidence map›Paper›PMID 30726573›Full record

SynthesisMovement disorders : official journal of the Movement Disorder Society2019

Emerging links between pediatric lysosomal storage diseases and adult parkinsonism.

Daniel Ysselstein, Joshua M Shulman, Dimitri Krainc

Open access · greenAbstract readSystematic Review
In one paragraph

Synthesis in Movement disorders : official journal of the Movement Disorder Society, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed
4.7field-weighted citation impact, top 4% 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

23 citing papers in PubMed, 42 citations in OpenAlex.

  1. Article
  2. Adult-Onset Neuronal Ceroid Lipofuscinosis:Tremor and other hyperkinetic movements (New York, N.Y.) · 2024
    Article
  3. Review
  4. Review
  5. Article
  6. Article
  7. Article
  8. Emerging and converging molecular mechanisms in dystonia.Journal of neural transmission (Vienna, Austria : 1996) · 2021
    Review
  9. Article
  10. Article
  11. Review
  12. Article
  13. Review
  14. Article
  15. Article
  16. Review
  17. Review
  18. Loss-of-FunctionFrontiers in neurology · 2020
    Article
  19. Article
  20. 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

3 authors at 2 institutions in 1 country.

Daniel YsselsteinKen and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Joshua M ShulmanDepartments of Neurology, Neuroscience, and Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Dimitri KraincKen and Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Northwestern University · USBaylor College of Medicine · US

Funding

General Motor Control Mechanisms and Disease Training ProgramT32NS041234 · NINDS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI BEVAN, MARK D · 2001 to 2022
$6.0M
The Role of Lysosomal Glucocerebrosidase in SynucleinopathiesR01NS076054 · NINDS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI KRAINC, DIMITRI · 2011 to 2020
$4.1M
The role of ATP13A2/PARK9 in secretion of exosomes and alpha synucleinR37NS096241 · NINDS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI KRAINC, DIMITRI · 2016 to 2020
$3.1M
Rational derivation of DA neuron subtypes from iPS cells for improved modelling of Parkinson's diseaseR01NS096240 · NINDS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI AWATRAMANI, RAJESHWAR B, KRAINC, DIMITRI · 2016 to 2020
$3.0M
Evaluation of glucocerebrosidase pathway biomarkers in Parkinson DiseaseU01NS094148 · NINDS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KRAINC, DIMITRI, SAUNDERS-PULLMAN, RACHEL · 2015 to 2017
$1.4M
NINDS NIH HHS R01 NS076054NINDS NIH HHS R01 NS096240NINDS NIH HHS R37 NS096241NINDS NIH HHS T32 NS041234NINDS NIH HHS U01 NS094148
6 · The paper itself

Abstract

Lysosomal storage disorders comprise a clinically heterogeneous group of autosomal-recessive or X-linked genetic syndromes caused by disruption of lysosomal biogenesis or function resulting in accumulation of nondegraded substrates. Although lysosomal storage disorders are diagnosed predominantly in children, many show variable expressivity with clinical presentations possible later in life. Given the important role of lysosomes in neuronal homeostasis, neurological manifestations, including movement disorders, can accompany many lysosomal storage disorders. Over the last decade, evidence from genetics, clinical epidemiology, cell biology, and biochemistry have converged to implicate links between lysosomal storage disorders and adult-onset movement disorders. The strongest evidence comes from mutations in Glucocerebrosidase, which cause Gaucher's disease and are among the most common and potent risk factors for PD. However, recently, many additional lysosomal storage disorder genes have been similarly implicated, including SMPD1, ATP13A2, GALC, and others. Examination of these links can offer insight into pathogenesis of PD and guide development of new therapeutic strategies. We systematically review the emerging genetic links between lysosomal storage disorders and PD. © 2019 International Parkinson and Movement Disorder Society.

Indexed as

AdultChildGalactosylceramidaseGaucher DiseaseGlucosylceramidaseHumansLeukodystrophy, Globoid CellLysosomal Storage DiseasesMucopolysaccharidosis IIIMutationNeuronal Ceroid-LipofuscinosesNiemann-Pick DiseasesParkinson DiseaseParkinsonian DisordersPhenotypeProton-Translocating ATPasesATP13A2 protein, humanGalactosylceramidaseGlucosylceramidaseProton-Translocating ATPasesSMPD1 protein, humanSphingomyelin Phosphodiesterasegeneticslysosomal storage diseasemovement disordersParkinson's disease

Identifiers

PMID30726573
PMCPMC6520126
OpenAlexW2913039512

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.