Evidence map›Paper›PMID 39287920›Full record

ArticleCerebellum (London, England)2024

CACNA1G Causes Dominantly Inherited Myoclonus-Ataxia with Intellectual Disability: A Case Report.

Martina De Riggi, Agnese De Giorgi, Luca Pollini, Luca Angelini, Giulia Paparella, Antonio Cannavacciuolo, Daniele Birreci, Davide Costa, Alessandra Tessa, Gemma Natale and 5 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Cerebellum (London, England), 2024. 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. From early psychiatric symptoms to an adolescent diagnosis: Clues from childhood in spinocerebellar ataxia Type-42.Dusunen adam : Bakirkoy Ruh ve Sinir Hastaliklari Hastanesi yayin organi · 2026
    Article
  2. 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

15 authors.

Martina De RiggiDepartment of Human Neurosciences, Sapienza University of Rome, Viale dell'Università, 30, Rome, 00185, Italy.
Agnese De GiorgiDepartment of Human Neurosciences, Sapienza University of Rome, Viale dell'Università, 30, Rome, 00185, Italy.
Luca PolliniDepartment of Human Neurosciences, Sapienza University of Rome, Viale dell'Università, 30, Rome, 00185, Italy.
Luca AngeliniIRCCS Neuromed, Pozzilli, IS, Italy.
Giulia PaparellaDepartment of Human Neurosciences, Sapienza University of Rome, Viale dell'Università, 30, Rome, 00185, Italy.
Antonio CannavacciuoloIRCCS Neuromed, Pozzilli, IS, Italy.
Daniele BirreciDepartment of Human Neurosciences, Sapienza University of Rome, Viale dell'Università, 30, Rome, 00185, Italy.
Davide CostaIRCCS Neuromed, Pozzilli, IS, Italy.
Alessandra TessaMolecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
Gemma NataleMolecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
Marco FiorelliDepartment of Human Neurosciences, Sapienza University of Rome, Viale dell'Università, 30, Rome, 00185, Italy.
Daniele GalatoloMolecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
Filippo Maria SantorelliMolecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Stella Maris Foundation, Pisa, Italy.
Serena GalosiDepartment of Human Neurosciences, Sapienza University of Rome, Viale dell'Università, 30, Rome, 00185, Italy.
Matteo BolognaDepartment of Human Neurosciences, Sapienza University of Rome, Viale dell'Università, 30, Rome, 00185, Italy. matteo.bologna@uniroma1.it.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Spinocerebellar ataxias (SCAs) are characterized by substantial phenotypic variability. Among them, SCA42 is a rare non-expansion entity presenting with slowly progressive cerebellar syndrome but whose clinical spectrum may be also wider. A 53-year-old male presented with progressive myoclonus-ataxia and intellectual disability. Genetic screening revealed a novel c.3835G > A (p. Asp1279Asn) variant in the CACNA1G gene. SCA42 is a rare non-expansion SCA caused by mutations in CACNA1G on chromosome 17q21, encoding the Ca(V)3.1, a low-threshold voltage-gated T-type calcium channel. The novel variant we identified is potentially involved in channel activity. This case expands the knowledge regarding CACNA1G-associated phenotype and highlights the importance of genetic screening in myoclonus-ataxia disorders.

Indexed as

Calcium Channels, T-TypeIntellectual DisabilityHumansMaleMiddle AgedSpinocerebellar AtaxiasCACNA1G protein, humanCalcium Channels, T-TypeAtaxiaCACNA1GGeneticIntellectual disabilityMyoclonus

Identifiers

PMID39287920
PMCPMC11585495

What OpenQuestion holds

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LicenceCC BY
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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.