Evidence map›Paper›PMID 39729134›Full record

ArticleCerebellum (London, England)2024

Unravelling Heterogeneity: A Rare PNPT1 Variant in Childhood-Onset Spinocerebellar Ataxia with Sensorineural Hearing Loss.

Lakshmi Madhuri Nallapaneni, Anish Mehta, Prabhudev Hiremath, R Pradeep, Mahendra Javali, Purushotham T Acharya

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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 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

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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

1 citing paper in PubMed.

  1. 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

6 authors.

Lakshmi Madhuri NallapaneniDepartment of Neurology, Ramaiah Medical College and Hospitals, Ramaiah University of Applied Sciences, Bengaluru, India.ORCID https://orcid.org/0009-0004-3709-022X
Anish MehtaDepartment of Neurology, Ramaiah Medical College and Hospitals, Ramaiah University of Applied Sciences, Bengaluru, India. anishmehta1302@gmail.com.ORCID https://orcid.org/0000-0003-0200-1835
Prabhudev HiremathDepartment of Neurology, Ramaiah Medical College and Hospitals, Ramaiah University of Applied Sciences, Bengaluru, India.ORCID https://orcid.org/0000-0002-8482-161X
R PradeepDepartment of Neurology, Ramaiah Medical College and Hospitals, Ramaiah University of Applied Sciences, Bengaluru, India.ORCID https://orcid.org/0000-0002-6409-6318
Mahendra JavaliDepartment of Neurology, Ramaiah Medical College and Hospitals, Ramaiah University of Applied Sciences, Bengaluru, India.ORCID https://orcid.org/0000-0002-1094-7965
Purushotham T AcharyaDepartment of Neurology, Ramaiah Medical College and Hospitals, Ramaiah University of Applied Sciences, Bengaluru, India.ORCID https://orcid.org/0000-0002-8225-5300

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Spinocerebellar ataxias (SCAs) are a diverse and heterogeneous group of inherited neurodegenerative disorders marked by progressive ataxia and cerebellar degeneration. This case report details an 11-year-old Indian boy with childhood-onset ataxia and severe sensorineural hearing loss, a rarely reported concomitance in pediatric neurology. Genetic analysis identified a unique heterozygous 3' splice site variant in the PNPT1 gene (c.2014-3 C > G) of pathogenic significance, confirming the diagnosis of SCA25. This case highlights the phenotypic and genotypic heterogeneity of PNPT1 gene-related SCA25 and suggests an autosomal dominant inheritance pattern with low penetrance. It underscores the need for functional studies to further validate the splice variant reported herein and emphasizes the importance of a high index of suspicion for genetic analysis and genetic counselling in children with concurrent hearing loss and progressive ataxia, even in the absence of a clear autosomal dominant inheritance pattern.

Indexed as

Hearing Loss, SensorineuralSpinocerebellar AtaxiasChildHumansMaleAutosomal dominant inheritanceChildhood-onset ataxiaPNPT1 geneSensorineural hearing lossSpinocerebellar ataxiaSplice site variant

Identifiers

PMID39729134

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.