Evidence map›Paper›PMID 30533528›Full record

ArticleNeurology. Genetics2018

Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype.

Nataly I Montes-Chinea, Zhuo Guan, Marcella Coutts, Cecilia Vidal, Steve Courel, Adriana P Rebelo, Lisa Abreu, Stephan Zuchner, J Troy Littleton, Mario A Saporta

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

Article in Neurology. Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed
1.6field-weighted citation impact, top 18% 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

14 citing papers in PubMed, 28 citations in OpenAlex.

  1. Muscles (Basel, Switzerland) · 2026
    Review
  2. Article
  3. Review
  4. Review
  5. Review
  6. Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder.Genetics in medicine : official journal of the American College of Medical Genetics · 2022
    Article
  7. Review
  8. Review
  9. Article
  10. Function of Drosophila Synaptotagmins in membrane trafficking at synapses.Cellular and molecular life sciences : CMLS · 2021
    Review
  11. New recessive mutations inNeurology. Genetics · 2020
    Article
  12. Article
  13. Article
  14. 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

10 authors at 2 institutions in 1 country.

Nataly I Montes-ChineaDepartment of Neurology (N.I.M.-C., M.C., C.V., M.A.S.), University of Miami Miller School of Medicine FL; Department of Biology (Z.G., J.T.L.) and Department of Brain and Cognitive Sciences (Z.G., J.T.L.), The Picower Institute for Learning & Memory, Massachusetts Institute of Technology, Cambridge; and Department of Human Genetics (S.C., A.P.R., L.A., S.Z., M.A.S.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL.
Zhuo GuanDepartment of Neurology (N.I.M.-C., M.C., C.V., M.A.S.), University of Miami Miller School of Medicine FL; Department of Biology (Z.G., J.T.L.) and Department of Brain and Cognitive Sciences (Z.G., J.T.L.), The Picower Institute for Learning & Memory, Massachusetts Institute of Technology, Cambridge; and Department of Human Genetics (S.C., A.P.R., L.A., S.Z., M.A.S.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL.
Marcella CouttsDepartment of Neurology (N.I.M.-C., M.C., C.V., M.A.S.), University of Miami Miller School of Medicine FL; Department of Biology (Z.G., J.T.L.) and Department of Brain and Cognitive Sciences (Z.G., J.T.L.), The Picower Institute for Learning & Memory, Massachusetts Institute of Technology, Cambridge; and Department of Human Genetics (S.C., A.P.R., L.A., S.Z., M.A.S.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL.
Cecilia VidalDepartment of Neurology (N.I.M.-C., M.C., C.V., M.A.S.), University of Miami Miller School of Medicine FL; Department of Biology (Z.G., J.T.L.) and Department of Brain and Cognitive Sciences (Z.G., J.T.L.), The Picower Institute for Learning & Memory, Massachusetts Institute of Technology, Cambridge; and Department of Human Genetics (S.C., A.P.R., L.A., S.Z., M.A.S.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL.
Steve CourelDepartment of Neurology (N.I.M.-C., M.C., C.V., M.A.S.), University of Miami Miller School of Medicine FL; Department of Biology (Z.G., J.T.L.) and Department of Brain and Cognitive Sciences (Z.G., J.T.L.), The Picower Institute for Learning & Memory, Massachusetts Institute of Technology, Cambridge; and Department of Human Genetics (S.C., A.P.R., L.A., S.Z., M.A.S.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL.
Adriana P RebeloDepartment of Neurology (N.I.M.-C., M.C., C.V., M.A.S.), University of Miami Miller School of Medicine FL; Department of Biology (Z.G., J.T.L.) and Department of Brain and Cognitive Sciences (Z.G., J.T.L.), The Picower Institute for Learning & Memory, Massachusetts Institute of Technology, Cambridge; and Department of Human Genetics (S.C., A.P.R., L.A., S.Z., M.A.S.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL.
Lisa AbreuDepartment of Neurology (N.I.M.-C., M.C., C.V., M.A.S.), University of Miami Miller School of Medicine FL; Department of Biology (Z.G., J.T.L.) and Department of Brain and Cognitive Sciences (Z.G., J.T.L.), The Picower Institute for Learning & Memory, Massachusetts Institute of Technology, Cambridge; and Department of Human Genetics (S.C., A.P.R., L.A., S.Z., M.A.S.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL.
Stephan ZuchnerDepartment of Neurology (N.I.M.-C., M.C., C.V., M.A.S.), University of Miami Miller School of Medicine FL; Department of Biology (Z.G., J.T.L.) and Department of Brain and Cognitive Sciences (Z.G., J.T.L.), The Picower Institute for Learning & Memory, Massachusetts Institute of Technology, Cambridge; and Department of Human Genetics (S.C., A.P.R., L.A., S.Z., M.A.S.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL.
J Troy LittletonDepartment of Neurology (N.I.M.-C., M.C., C.V., M.A.S.), University of Miami Miller School of Medicine FL; Department of Biology (Z.G., J.T.L.) and Department of Brain and Cognitive Sciences (Z.G., J.T.L.), The Picower Institute for Learning & Memory, Massachusetts Institute of Technology, Cambridge; and Department of Human Genetics (S.C., A.P.R., L.A., S.Z., M.A.S.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL.
Mario A SaportaDepartment of Neurology (N.I.M.-C., M.C., C.V., M.A.S.), University of Miami Miller School of Medicine FL; Department of Biology (Z.G., J.T.L.) and Department of Brain and Cognitive Sciences (Z.G., J.T.L.), The Picower Institute for Learning & Memory, Massachusetts Institute of Technology, Cambridge; and Department of Human Genetics (S.C., A.P.R., L.A., S.Z., M.A.S.), Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL.
University of Miami · USMassachusetts Institute of Technology · US

Funding

CHARACTERIZATION OF THE DROSOPHILA SYNAPTOTAGMIN FAMILYR01NS040296 · NINDS · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI LITTLETON, J. TROY · 2000 to 2024
$7.9M
Institutional Career Development CoreKL2TR002737 · NCATS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI RUNDEK, TATJANA, SCOTT, GWENDOLYN BARBARA · 2018 to 2022
$3.6M
NCATS NIH HHS KL2 TR002737NINDS NIH HHS R01 NS040296
6 · The paper itself

Abstract

objectiveTo report a new

methodsWe report a multigenerational family with a new missense mutation, c. 1112T>A (p. Ile371Lys), in the C2B domain of

resultsBoth proband and her mother present a similar clinical phenotype characterized by a slowly progressive, predominantly motor neuropathy and clear evidence of presynaptic NMJ dysfunction on nerve conduction studies. Validation of this new variant was accomplished by characterization of the mutation homologous to the human c. 1112T>A variant in

conclusionsThis report provides further confirmation of the role of SYT2 in human disease and corroborates the resultant unique clinical phenotype consistent with heriditary distal motor neuropathy. SYT2-related motor neuropathy is a rare disease but should be suspected in patients presenting with a combination of presynaptic NMJ dysfunction (resembling Lambert-Eaton myasthenic syndrome) and a predominantly motor neuropathy, especially in the context of a positive family history.

Identifiers

PMID30533528
PMCPMC6244021
OpenAlexW2895900636

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

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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.