On Spinocerebellar Ataxia 21 as a Mimicker of Cerebral Palsy

OBJECTIVES: Sporadic variants in ataxia genes may mimic cerebral palsy (CP). Spinocerebellar ataxia 21 (SCA21), a very rare autosomal dominant disease, was discovered to be associated with variants in the transmembrane protein 240 (TMEM240) gene in 2014. In this report, we present 2 patients with sp...

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Detalles Bibliográficos
Autores principales: van der Put, Johanna, Daugeliene, Dalia, Bergendal, Åsa, Kvarnung, Malin, Svenningsson, Per, Paucar, Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Clinical/Scientific Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9157581/
https://www.ncbi.nlm.nih.gov/pubmed/35655586
http://dx.doi.org/10.1212/NXG.0000000000000668

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9157581/
https://www.ncbi.nlm.nih.gov/pubmed/35655586
http://dx.doi.org/10.1212/NXG.0000000000000668

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