Evidence map›Paper›PMID 35585435›Full record

ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2022

Beyond canvas: behavioral onset of rfc1-expansion disease in an Italian family-causal or casual?

Fabiana Colucci, Daniela Di Bella, Chiara Pisciotta, Elisa Sarto, Francesca Gualandi, Marcella Neri, Alessandra Ferlini, Elena Contaldi, Maura Pugliatti, Davide Pareyson and 1 more

Abstract 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, 2022. 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. Review
  2. Brain communications · 2023
    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.

Fabiana ColucciDepartment of Biomedical and Specialist Surgical Sciences, Section of Neurological, Psychiatric and Psychological Sciences, University of Ferrara, Ferrara, Italy. fabiana.colucci9@gmail.com.ORCID http://orcid.org/0000-0003-1945-8153
Daniela Di BellaUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Chiara PisciottaUnit of Rare Neurodegenerative and Neurometabolic Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Elisa SartoUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Francesca GualandiUnit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Marcella NeriUnit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Alessandra FerliniUnit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Elena ContaldiDepartment of Neurology and Movement Disorders Centre, Translational Medicine, University of Piemonte Orientale and "Maggiore della Carità" University Hospital, Novara, Italy.
Maura PugliattiDepartment of Biomedical and Specialist Surgical Sciences, Section of Neurological, Psychiatric and Psychological Sciences, University of Ferrara, Ferrara, Italy.
Davide PareysonUnit of Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Mariachiara SensiDepartment of Neuroscience and Rehabilitation, AziendaOspedaliera-Universitaria S. Anna, Ferrara, Italy.

Funding

Fondazione per la Ricerca Biomedica CP 20/2018
6 · The paper itself

Abstract

introductionBiallelic intronic AAGGG repeat expansion in the replication factor C subunit 1 (RFC1) gene was recently identified in two/third of patients with cerebellar ataxia, sensory neuropathy, and bilateral vestibular areflexia syndrome (CANVAS). The phenotypic spectrum has expanded since (i.e., parkinsonism, motor neuron involvement, cognitive decline); no behavioral symptoms have been reported yet. CASE REPORT: We report an Italian family that met the diagnostic criteria for CANVAS, and RFC1-expansion was detected in five of seven. All the affected members presented behavioral-psychiatric symptoms (anxiety, panic attacks, alcohol abuse) before the multisystemic RFC1-expansion manifestation. The disease course was progressive, with ataxia and behavioral-cognitive aspects as the most disabling symptoms.

conclusionThese behavioral-cognitive observations may broaden the RFC1-expansion phenotypic spectrum and highlight the importance of investigating the whole non-motor symptoms in ataxic patients.

Indexed as

Bilateral VestibulopathyCerebellar AtaxiaVestibular DiseasesAtaxiaHumansReflex, AbnormalAtaxiaBehavioral-psychiatric symptomsCANVASCerebellarRFC1 expansion

Identifiers

PMID35585435

What OpenQuestion holds

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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.