Evidence map›Paper›PMID 42760339›Full record

ArticleNeurogenetics2026

Expanding the adult spectrum of TUBB4A disease: a spasticity-tremor phenotype with network imaging correlates.

Edis Hacılar, Bedia Samanci, Ulas Ay, Ebru Erzurumluoglu, Ali Bayram, Erdi Sahin, Mehmet Barburoglu, Sanem Sultan Yoruk Oner, Sevilhan Artan, Hasmet Hanagasi and 1 more

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In one paragraph

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

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0citing papers in PubMed
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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

11 authors.

Edis HacılarBehavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Capa Fatih, 34093, Turkey.
Bedia SamanciBehavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Capa Fatih, 34093, Turkey. bedia.marangozoglu@istanbul.edu.tr.
Ulas AyHulusi Behcet Life Sciences Research Laboratory, Neuroimaging Unit, Istanbul University, Istanbul, Türkiye.
Ebru ErzurumluogluDepartment of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Türkiye.
Ali BayramHulusi Behcet Life Sciences Research Laboratory, Neuroimaging Unit, Istanbul University, Istanbul, Türkiye.
Erdi SahinBehavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Capa Fatih, 34093, Turkey.
Mehmet BarburogluDepartment of Radiology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Türkiye.
Sanem Sultan Yoruk OnerBehavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Capa Fatih, 34093, Turkey.
Sevilhan ArtanDepartment of Medical Genetics, Faculty of Medicine, Eskisehir Osmangazi University, Eskisehir, Türkiye.
Hasmet HanagasiBehavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Capa Fatih, 34093, Turkey.
Basar BilgicBehavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Capa Fatih, 34093, Turkey.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

TUBB4A mutations cause a spectrum of neurological disorders, but adult-onset hereditary spastic paraplegia is rarely described. We characterized a Turkish family with a novel TUBB4A nucleotide variant (c.1023 C > A, p.Phe341Leu) using clinical, genetic, and advanced neuroimaging (VBM, DTI) compared to 15 controls. The proband exhibited late-onset spasticity, tremor and mild frontal executive dysfunction. Routine MRI showed posterior-predominant white matter hyperintensities. VBM revealed subclinical gray matter atrophy in the basal ganglia, thalami, and cerebellum, while DTI demonstrated widespread microstructural damage across motor and associative tracts. Our findings expand the clinicoradiological spectrum of TUBB4A disorders, suggesting distributed structural abnormalities despite relatively mild clinical expression.

Indexed as

Muscle SpasticitySpastic Paraplegia, HereditaryTubulinAdultBrainFemaleHumansMagnetic Resonance ImagingMaleMiddle AgedMutationNeuroimagingPedigreePhenotypeTUBB4A protein, humanTubulingenetichereditary spastic paraplegianeuroimagingTUBB4A

Identifiers

PMID42760339

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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.