Evidence map›Paper›PMID 42571118›Full record

ArticleClinical case reports2026

Regression, Ataxia, and Nystagmus in a Toddler: Unraveling a Rare Neurodegenerative Disorder.

K Venkataramana Reddy, Agasthya Daggu, Sumanth Reddy Mudiyala, Siddartha Reddy Gangapuram, M Geethika, Lakshya Nehal Samineni

Abstract read
In one paragraph

Article in Clinical case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

K Venkataramana ReddyMamata Academy of Medical Sciences Hyderabad India.
Agasthya DagguMamata Academy of Medical Sciences Hyderabad India.
Sumanth Reddy MudiyalaMamata Academy of Medical Sciences Hyderabad India.
Siddartha Reddy GangapuramMamata Academy of Medical Sciences Hyderabad India.
M GeethikaMamata Academy of Medical Sciences Hyderabad India.
Lakshya Nehal SamineniCollege of Medical Sciences Teaching Hospital Bharatpur Nepal.ORCID https://orcid.org/0009-0003-6635-5226

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Infantile neuroaxonal dystrophy (INAD) should be considered in any toddler presenting with psychomotor regression and cerebellar atrophy, even when basal ganglia iron deposition is absent on initial MRI. Molecular genetic testing of PLA2G6 is essential for definitive diagnosis, enabling accurate genetic counseling and timely multidisciplinary supportive care.

Indexed as

cerebellar atrophygeneticinfantile neuroaxonal dystrophyneurodegeneration with brain Iron accumulationneurodegenerative diseasesPLA2G6 ProteinHuman

Identifiers

PMID42571118
PMCPMC13451650

What OpenQuestion holds

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LicenceCC BY-NC
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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.