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

NeurogeneticsSep 19, 2026 (epub)
Case ReportNeurologyRadiology (Diagnostic)Medical GeneticsOpen access

Edis Hacılar, Bedia Samanci, Ulas Ay et al.

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Condensed from the publisher's abstract. An xxcode editorial summary of this publication has not been generated yet.

From the 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.

Source

PubMed · PMID 42760339Free full text on PubMed Central

Published in Neurogenetics. The text above is extracted from the publisher's own abstract and has not been edited by xxcode. For clinical decisions, review the original publication.

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