Evidence map›Paper›PMID 38617829›Full record

ReviewTremor and other hyperkinetic movements (New York, N.Y.)2024

Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated

Ugo Sorrentino, Luigi M Romito, Barbara Garavaglia, Mario Fichera, Isabel Colangelo, Holger Prokisch, Juliane Winkelmann, Jan Necpal, Robert Jech, Michael Zech

Open access · goldAbstract readReviewCase Reports
In one paragraph

Review in Tremor and other hyperkinetic movements (New York, N.Y.), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
0.3field-weighted citation impact, top 49% 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

1 citing paper in PubMed, 1 synthesis or guideline pooled it, 1 citations in OpenAlex.

  1. Spectrum of Dystonia in Spinocerebellar Ataxia.Tremor and other hyperkinetic movements (New York, N.Y.) · 2026
    Pooled it
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 5 institutions in 4 countries.

Ugo Sorrentino *Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy.ORCID 0000-0001-8139-6198
Luigi M Romito *Parkinson and Movement Disorders Unit, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.ORCID 0000-0002-6772-1035
Barbara GaravagliaMedical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.ORCID 0000-0003-4323-9145
Mario FicheraMedical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.ORCID 0000-0002-9609-3787
Isabel ColangeloMedical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.ORCID 0000-0001-6402-9417
Holger ProkischInstitute of Neurogenomics, Helmholtz Munich, Neuherberg, Germany.ORCID 0000-0003-2379-6286
Juliane WinkelmannInstitute of Neurogenomics, Helmholtz Munich, Neuherberg, Germany.ORCID 0000-0002-3074-599X
Jan Necpal2nd Department of Neurology, Faculty of Medicine, Comenius University, Bratislava, Slovakia.ORCID 0000-0002-4626-9588
Robert Jech *Department of Neurology and Centre of Clinical Neuroscience, General University Hospital and First Faculty of Medicine, Charles University, Kateřinská30, 12 800, Prague, Czech Republic.ORCID 0000-0002-9732-8947
Michael Zech *Institute of Neurogenomics, Helmholtz Munich, Neuherberg, Germany.ORCID 0000-0001-8112-9153
Fondazione IRCCS Istituto Neurologico Carlo Besta · ITHelmholtz Zentrum München · DECharles University · CZTechnická univerzita vo Zvolene · SKUniversity of Padua · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Spinocerebellar ataxia 21 (SCA21) is a rare neurological disorder caused by heterozygous variants in Case Series: We describe two newly identified families harboring the recurrent pathogenic Discussion: Adding to prior preliminary observations, our series highlights the relevance of hyperkinetic movements as clinically meaningful features of SCA21.

Indexed as

DystoniaDystonic DisordersMyoclonusSpinocerebellar DegenerationsAtaxiaHumansHyperkinesisMembrane ProteinsRare DiseasesSyndromeMembrane ProteinsTMEM240 protein, humanDystoniaMyoclonusPro170LeuSCA21Spinocerebellar ataxiaTMEM240

Identifiers

PMID38617829
PMCPMC11012930
OpenAlexW4394678672

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.