Evidence map›Paper›PMID 42525356›Full record

ArticleActa neurologica Belgica2026

FAT2-associated early-onset cerebellar ataxia: report of novel phenotype and variant.

Rohan R Mahale, Pramod K, Shravan H, Pooja Mailankody

Abstract readLetter
PubMed Publisher
In one paragraph

Article in Acta neurologica Belgica, 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

4 authors.

Rohan R MahaleDepartment of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, 560029, India. rohanmahale83@gmail.com.
Pramod KDepartment of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, 560029, India.
Shravan HDepartment of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, 560029, India.
Pooja MailankodyDepartment of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, 560029, India.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

SCA45/FAT2-associated late-onset cerebellar ataxia was reported in 2017 in 2 families with pure cerebellar syndrome with age of onset after 40 years of age. Similar few families with SCA45 have been reported so far. Hereby, we report a 25-year-old man presenting with pan-cerebellar syndrome noticed at an age of 22 years and had a novel missense variant in FAT2 gene.

Indexed as

Cerebellar ataxiaCerebellar atrophyFAT2 gene

Identifiers

PMID42525356

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.