A novel mutation in ATP13A2 gene in a patient with complicated hereditary spastic paraplegia accompanied by tubulopathy

Acta Neurol Belg. 2023 Oct;123(5):1985-1987. doi: 10.1007/s13760-022-02021-z. Epub 2022 Jul 5.

Authors

Berin Inan¹, Filiz Azman², Dilek Aktas³, Yilmaz Yildiz⁴, Serap Saygi²

Affiliations

¹ Department of Neurology, Hacettepe University Faculty of Medicine, 06100, Sıhhıye, Ankara, Turkey. [email protected].
² Department of Neurology, Hacettepe University Faculty of Medicine, 06100, Sıhhıye, Ankara, Turkey.
³ Damagen Genetic Diagnostic Center, Ankara, Turkey.
⁴ Division of Pediatric Metabolism, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

PMID: 35789476
DOI: 10.1007/s13760-022-02021-z

No abstract available

Publication types

Letter

MeSH terms

Humans
Mutation / genetics
Pedigree
Proton-Translocating ATPases / genetics
Spastic Paraplegia, Hereditary* / complications
Spastic Paraplegia, Hereditary* / genetics

Substances

ATP13A2 protein, human
Proton-Translocating ATPases