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Article

A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A.

Journal of neurology - 1 Oct 2023

Torella Annalaura, Ricca Ivana, Piluso Giulio, Galatolo Daniele, De Michele Giuseppe, Zanobio Mariateresa, Trovato Rosanna, De Michele Giovanna, Zeuli Roberta, Pane Chiara, Cocozza Sirio, Saccà Francesco, Santorelli Filippo M, Nigro Vincenzo, Filla Alessandro

Abstract excerpt

Tubulinopathies encompass neurodevelopmental disorders caused by mutations in genes encoding for different isotypes of α- and β-tubulins, the structural components of microtubules. Less frequently, mutations in tubulins may underlie neurodegenerative disorders. In the present study, we report two families, one with 11 affected individuals and the other with a single patient, carrying a novel, likely pathogenic,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37418012
DOI: 10.1007/s00415-023-11816-w
PMCID: PMC10511369

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