Evidence map›Paper›PMID 37332636›Full record

ArticleMovement disorders clinical practice2023

Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain.

Raquel Baviera-Muñoz, Lidón Carretero-Vilarroig, Nuria Muelas, Rafael Sivera, Pablo Sopena-Novales, Begoña Martínez-Sanchis, Isabel Sastre-Bataller, Marina Campins-Romeu, Irene Martínez-Torres, Jose Manuel García-Verdugo and 4 more

Open access · bronzeAbstract read
In one paragraph

Article in Movement disorders clinical practice, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
0.9field-weighted citation impact, top 31% 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

3 citing papers in PubMed, 1 synthesis or guideline pooled it, 6 citations in OpenAlex.

  1. Spectrum of Dystonia in Spinocerebellar Ataxia.Tremor and other hyperkinetic movements (New York, N.Y.) · 2026
    Pooled it
  2. Article
  3. 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

14 authors at 4 institutions in 1 country.

Raquel Baviera-MuñozNeurology Department Hospital Universitari I Politècnic La Fe Valencia Spain.ORCID https://orcid.org/0000-0001-9913-4268
Lidón Carretero-VilarroigNeuromuscular and Ataxias Research Group Instituto de Investigación Sanitaria La Fe Valencia Spain.
Nuria MuelasNeurology Department Hospital Universitari I Politècnic La Fe Valencia Spain.
Rafael SiveraNeurology Department Hospital Universitari I Politècnic La Fe Valencia Spain.ORCID https://orcid.org/0000-0003-2810-1180
Pablo Sopena-NovalesNuclear Medicine Department Hospital Universitari I Politècnic La Fe Valencia Spain.
Begoña Martínez-SanchisNuclear Medicine Department Hospital Universitari I Politècnic La Fe Valencia Spain.
Isabel Sastre-BatallerNeurology Department Hospital Universitari I Politècnic La Fe Valencia Spain.
Marina Campins-RomeuNeurology Department Hospital Universitari I Politècnic La Fe Valencia Spain.ORCID https://orcid.org/0000-0001-9348-9172
Irene Martínez-TorresNeurology Department Hospital Universitari I Politècnic La Fe Valencia Spain.
Jose Manuel García-VerdugoCavanilles Institute of Biodiversity and Evolutionary University of Valencia Valencia Spain.ORCID https://orcid.org/0000-0001-9872-6499
Jose M MillánRare Diseases Joint Unit CIPF-IIS La Fe Valencia Spain.ORCID https://orcid.org/0000-0002-7211-9129
Teresa JaijoRare Diseases Joint Unit CIPF-IIS La Fe Valencia Spain.ORCID https://orcid.org/0000-0003-0973-9146
Elena AllerRare Diseases Joint Unit CIPF-IIS La Fe Valencia Spain.ORCID https://orcid.org/0000-0001-7973-5250
Luis BatallerNeurology Department Hospital Universitari I Politècnic La Fe Valencia Spain.ORCID https://orcid.org/0000-0002-2471-4492
Hospital Universitari i Politècnic La Fe · ESUniversitat de València · ESCentre for Biomedical Network Research on Rare Diseases · ESUniversidad Cardenal Herrera CEU · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Autosomal dominant spinocerebellar ataxia 36 (SCA36) is caused by hexanucleotide repeat expansion in the Objectives: To assess frequency, clinical and genetic features of SCA36 in Eastern Spain. Methods: Results: SCA36 was identified in 37 individuals from 16 unrelated families. It represented 5.4% of hereditary ataxia patients. The majority were originally from the same region and displayed a shared haplotype. Mean age at onset was 52.5 years. Non-ataxic features included: hypoacusis (67.9%), pyramidal signs (46.4%), lingual fasciculations/atrophy (25%), dystonia (17.8%), and parkinsonism with evidence of dopaminergic denervation (10.7%). Conclusions: SCA36 is a frequent cause of hereditary ataxia in Eastern Spain, and is associated with a strong founder effect. SCA36 analysis should be considered prior to other studies, especially in AD presentations. Parkinsonism reported here broadens SCA36 clinical spectrum.

Indexed as

geneticshaplotypespinocerebellar ataxia

Identifiers

PMID37332636
PMCPMC10272893
OpenAlexW4362557751

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.