Evidence map›Paper›PMID 40478462›Full record

ArticleCerebellum (London, England)2025

Isolated Generalized Chorea in a Patient with Small-Expanded Allele Spinocerebellar Ataxia 17.

Giulia Paparella, Martina De Riggi, Simone Aloisio, Adriana Martini, Luca Angelini, Daniele Birreci, Davide Costa, Antonio Cannavacciuolo, Anna Maria Griguoli, Stefano Gambardella and 1 more

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Cerebellum (London, England), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed.

  1. Article
  2. 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

11 authors.

Giulia PaparellaDepartment of Human Neurosciences, Sapienza University of Rome, Rome, Italy.
Martina De RiggiDepartment of Human Neurosciences, Sapienza University of Rome, Rome, Italy.
Simone AloisioDepartment of Human Neurosciences, Sapienza University of Rome, Rome, Italy.
Adriana MartiniDepartment of Human Neurosciences, Sapienza University of Rome, Rome, Italy.
Luca AngeliniIRCCS Neuromed, Pozzilli (IS), Italy.
Daniele BirreciDepartment of Human Neurosciences, Sapienza University of Rome, Rome, Italy.
Davide CostaIRCCS Neuromed, Pozzilli (IS), Italy.
Antonio CannavacciuoloIRCCS Neuromed, Pozzilli (IS), Italy.
Anna Maria GriguoliIRCCS Neuromed, Pozzilli (IS), Italy.
Stefano GambardellaIRCCS Neuromed, Pozzilli (IS), Italy.
Matteo BolognaDepartment of Human Neurosciences, Sapienza University of Rome, Rome, Italy. matteo.bologna@uniroma1.it.

Funding

Ministero della Salute Current Research 2025
6 · The paper itself

Abstract

backgroundSpinocerebellar ataxia type 17 (SCA17) is an autosomal dominant disease caused by a polyglutamine-encoding CAG/CAA repeat expansion within the TATA box-binding protein (TBP) gene. It is characterized by a markedly heterogeneous phenomenology and complex genotype-phenotype relationships. CASE DESCRIPTION: We describe the clinical, neuropsychological, and neuroimaging findings of a 73-year-old patient who presented a 10-year history of generalized hyperkinetic movements and depressive symptoms. The patient's family history was unremarkable. Neurological examination revealed choreic movements affecting the upper and lower limbs, the face and the trunk with no additional neurological signs. Blood sample analysis, brain imaging, and neuropsychological evaluation revealed normal results. Genetic analysis identified, in the TBP gene, the 41-CAG pathological allele with reduced penetrance.

conclusionThe present case report provides further insight into the small-expanded allele SCA17-associated phenotype, supporting the recently updated genotype-phenotype assessment for SCA17.

Indexed as

ChoreaSpinocerebellar AtaxiasTATA-Box Binding ProteinTrinucleotide Repeat ExpansionAgedAllelesBrainHumansTATA-Box Binding ProteinTBP protein, humanAtaxiaATX-TBPCerebellumChoreaSCA17

Identifiers

PMID40478462

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.