Evidence map›Paper›PMID 38494459›Full record

ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2024

Cognitive dysfunction, social behavior disorder, cerebellar ataxia, and atypical brain FDG-PET presentation in spinocerebellar ataxia 17: a case report.

Alberto Grassini, Aurora Cermelli, Fausto Roveta, Michela Zotta, Adriana Lesca, Andrea Marcinnò, Fabio Ferrandes, Elisa Piella, Silvia Boschi, Chiara Lombardo and 5 more

Erratum issuedAbstract readCase Reports
PubMed Publisher
In one paragraph

Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
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

3 citing papers in PubMed, 1 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

15 authors at 2 institutions in 2 countries.

Alberto Grassini *Aging Brain and Memory Clinic, Department of Neuroscience, "Rita Levi Montalcini", Memory Clinic, University of Torino, Via Cherasco 15, 10126, Turin, Italy. alberto.grassini@unito.it.ORCID http://orcid.org/0000-0001-5011-2113
Aurora Cermelli *Aging Brain and Memory Clinic, Department of Neuroscience, "Rita Levi Montalcini", Memory Clinic, University of Torino, Via Cherasco 15, 10126, Turin, Italy.
Fausto RovetaAging Brain and Memory Clinic, Department of Neuroscience, "Rita Levi Montalcini", Memory Clinic, University of Torino, Via Cherasco 15, 10126, Turin, Italy.
Michela ZottaNuclear Medicine, Città Della Salute E Della Scienza University Hospital, Turin, Italy.
Adriana LescaNuclear Medicine, Città Della Salute E Della Scienza University Hospital, Turin, Italy.
Andrea MarcinnòAging Brain and Memory Clinic, Department of Neuroscience, "Rita Levi Montalcini", Memory Clinic, University of Torino, Via Cherasco 15, 10126, Turin, Italy.
Fabio FerrandesAging Brain and Memory Clinic, Department of Neuroscience, "Rita Levi Montalcini", Memory Clinic, University of Torino, Via Cherasco 15, 10126, Turin, Italy.
Elisa PiellaAging Brain and Memory Clinic, Department of Neuroscience, "Rita Levi Montalcini", Memory Clinic, University of Torino, Via Cherasco 15, 10126, Turin, Italy.
Silvia BoschiAging Brain and Memory Clinic, Department of Neuroscience, "Rita Levi Montalcini", Memory Clinic, University of Torino, Via Cherasco 15, 10126, Turin, Italy.
Chiara LombardoAging Brain and Memory Clinic, Department of Neuroscience, "Rita Levi Montalcini", Memory Clinic, University of Torino, Via Cherasco 15, 10126, Turin, Italy.
Alfredo BruscoDepartment of Neuroscience and Mental Health, Città Della Salute E Della Scienza University Hospital, Turin, Italy.
Salvatore GalloneDepartment of Neuroscience and Mental Health, Città Della Salute E Della Scienza University Hospital, Turin, Italy.
Elisa RubinoAging Brain and Memory Clinic, Department of Neuroscience, "Rita Levi Montalcini", Memory Clinic, University of Torino, Via Cherasco 15, 10126, Turin, Italy.
Amalia Bruni *Regional Neurogenetic Centre, Department of Primary Care, ASP Catanzaro, Lamezia Terme, Italy.
Innocenzo Rainero *Aging Brain and Memory Clinic, Department of Neuroscience, "Rita Levi Montalcini", Memory Clinic, University of Torino, Via Cherasco 15, 10126, Turin, Italy.
University of Turin · ITAzienda Ospedaliera Citta' della Salute e della Scienza di Torino · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSpinocerebellar ataxia 17 (SCA17) is a rare autosomal dominant form of inherited ataxia, caused by heterozygous trinucleotide repeat expansions encoding glutamine in the TATA box-binding protein (TBP) gene. CASE DESCRIPTION: We describe the clinical history, neuropsychological, and neuroimaging findings of a 42-year-old patient who presented for medical attention showing prevalent behavioral and cognitive problems along with progressively worsening gait disturbances. The patient's family history indicated the presence of SCA17 in the maternal lineage. Genetic analysis confirmed a heterozygous 52-CAG pathological expansion repeat in TBP (normal interval, 25-40 CAG. Brain 18-fluorodeoxyglucose positron emission tomography (FDG-PET) showed bilateral hypometabolism in the sensorimotor cortex, with a slight predominance on the right, as well as in the striatal nuclei and thalamic hypermetabolism, a finding similar to what is observed in Huntington's disease. The patient also underwent neuropsychological evaluation, which revealed mild cognitive impairment and difficulties in social interaction and understanding other's emotions (Faux Pas Test and Reading the Mind in the Eyes Test).

conclusionOur report emphasizes the importance of considering SCA17 as a possible diagnosis in patients with a prevalent progressive cognitive and behavioral disorders, even with a pattern of FDG-PET hypometabolism not primarily indicative of this disease.

Indexed as

Cognitive DysfunctionFluorodeoxyglucose F18Positron-Emission TomographySpinocerebellar AtaxiasAdultBrainCerebellar AtaxiaHumansNeuropsychological TestsSocial Behavior DisordersTATA-Box Binding ProteinFluorodeoxyglucose F18TATA-Box Binding ProteinHereditary ataxiasHuntington diseaseMentalizationPositron emission tomographySocial behavior disordersSpinocerebellar ataxias

Identifiers

PMID38494459
OpenAlexW4392924054

What OpenQuestion holds

Textmetadata
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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.