Evidence map›Paper›PMID 27250986›Full record

ReviewJournal of neural transmission (Vienna, Austria : 1996)2016

A53T in a parkinsonian family: a clinical update of the SNCA phenotypes.

Nicola Tambasco, Pasquale Nigro, Michele Romoli, Paolo Prontera, Simone Simoni, Paolo Calabresi

Abstract readCase ReportsReview
PubMed Publisher
In one paragraph

Review in Journal of neural transmission (Vienna, Austria : 1996), 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed
2.2field-weighted citation impact, top 13% 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

22 citing papers in PubMed, 37 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. Article
  5. Review
  6. Article
  7. Review
  8. α-Synuclein V15A Variant in Familial Parkinson's Disease Exhibits a Weaker Lipid-Binding Property.Movement disorders : official journal of the Movement Disorder Society · 2022
    Article
  9. Review
  10. Article
  11. Review
  12. The Impact ofLife (Basel, Switzerland) · 2021
    Review
  13. Review
  14. Review
  15. Article
  16. Review
  17. Review
  18. Review
  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

6 authors at 1 institution in 1 country.

Nicola TambascoClinica Neurologica, Azienda Ospedaliera e Universitaria di Perugia, S.Andrea delle Fratte, 06156, Perugia, Italy. n.tambasco@libero.it.
Pasquale NigroClinica Neurologica, Azienda Ospedaliera e Universitaria di Perugia, S.Andrea delle Fratte, 06156, Perugia, Italy.
Michele RomoliClinica Neurologica, Azienda Ospedaliera e Universitaria di Perugia, S.Andrea delle Fratte, 06156, Perugia, Italy.
Paolo PronteraServizio di Genetica Medica, Azienda Ospedaliera di Perugia, Perugia, Italy.
Simone SimoniClinica Neurologica, Azienda Ospedaliera e Universitaria di Perugia, S.Andrea delle Fratte, 06156, Perugia, Italy.
Paolo CalabresiClinica Neurologica, Azienda Ospedaliera e Universitaria di Perugia, S.Andrea delle Fratte, 06156, Perugia, Italy.
Azienda Ospedaliera di Perugia · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Approximately 15 % of PD patients with Parkinson Disease (PD) have the familial type and 5-10 % of these are known to have monogenic forms with either an autosomal dominant or a recessive inheritance pattern. Here, we report on a family carrying the A53T SNCA mutation and we review SNCA mutation phenotypes by comparing point mutations within each other as well as with duplication and triplication.

Indexed as

Mutationalpha-SynucleinFamilyFemaleGenetic Predisposition to DiseaseHumansMiddle AgedParkinson DiseasePhenotypealpha-SynucleinSNCA protein, humanGeneticsParkinson’s diseaseSNCAα-synuclein

Identifiers

PMID27250986
OpenAlexW2468999849

What OpenQuestion holds

Textmetadata
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.