Evidence map›Paper›PMID 39576496›Full record

ArticleActa neurologica Belgica2025

Expanding the phenotyping spectrum of Witteveen Kolk syndrome: first report of generalized dystonia and cerebellar ataxia.

Farsana Mustafa, Deepti Vibha, Manjari Tripathi, Shailesh B Gaikwad, Biswamohan Mishra

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In one paragraph

Article in Acta neurologica Belgica, 2025. 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

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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

5 authors.

Farsana MustafaDepartment of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Deepti VibhaDepartment of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Manjari TripathiDepartment of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Shailesh B GaikwadDepartment of Neuroimaging and Interventional Neuroradiology, All India Institute of Medical Sciences, New Delhi, India.
Biswamohan MishraDepartment of Neurology, All India Institute of Medical Sciences, New Delhi, India. biswamohan26@gmail.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Witteveen-Kolk syndrome (WITKOS) is an autosomal dominant disorder characterized by distinct facial features, microcephaly, short stature, intellectual disability, and subtle neuroimaging abnormalities. The syndrome is attributed to a loss of function mutation in the SIN3A gene, a member of the switch-insensitive 3 transcription regulator family. Herein, we present a 21-year-old woman with dysmorphic facial features, short stature, and a chronic, progressively worsening symmetric cerebellar ataxia, along with generalized dystonia. Whole-exome sequencing identified a heterozygous mutation in exon 7 of the SIN3A gene (c.1051 C>T, p.Pro351Ser), consistent with a diagnosis of WITKOS. Notably, dystonia has not been previously associated with this syndrome. This case underscores the clinical variability and broadens the phenotypic spectrum of WITKOS.

Indexed as

Cerebellar AtaxiaDystoniaDystonic DisordersIntellectual DisabilityMicrocephalyFemaleHumansMutationPhenotypeRepressor ProteinsYoung AdultRepressor ProteinsAtaxiaDystoniaFacial dysmorphismsNeurodevelopmental disorderSIN3A mutationWitteveen-Kolk syndrome (WITKOS)

Identifiers

PMID39576496

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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.