A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A.
Spastic ataxia
TUBA4A
Tubulinopathy
Journal
Journal of neurology
ISSN: 1432-1459
Titre abrégé: J Neurol
Pays: Germany
ID NLM: 0423161
Informations de publication
Date de publication:
Oct 2023
Oct 2023
Historique:
received:
09
05
2023
accepted:
07
06
2023
revised:
06
06
2023
medline:
21
9
2023
pubmed:
7
7
2023
entrez:
7
7
2023
Statut:
ppublish
Résumé
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, variant (p. Glu415Lys) in the TUBA4A gene (NM_006000). The phenotype, not previously described, is that of spastic ataxia. Our findings widen the phenotypic and genetic manifestations of TUBA4A variants and add a new type of spastic ataxia to be taken into consideration in the differential diagnosis.
Identifiants
pubmed: 37418012
doi: 10.1007/s00415-023-11816-w
pii: 10.1007/s00415-023-11816-w
pmc: PMC10511369
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
5057-5063Subventions
Organisme : AISA
ID : 1/2019
Organisme : Ministero della Salute
ID : RF-2019-12370417
Organisme : EJR-RD
ID : 441409627
Organisme : Solve-RD
ID : 779257
Organisme : Italian Telethon Foundation
ID : GP150001
Informations de copyright
© 2023. The Author(s).
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