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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...
Autores principales: | van der Put, Johanna, Daugeliene, Dalia, Bergendal, Åsa, Kvarnung, Malin, Svenningsson, Per, Paucar, Martin |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer
2022
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Materias: | |
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 |
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