Spinal cord‐predominant neuropathology in an adult‐onset case of POLR3A ‐related spastic ataxia

Biallelic mutations in POLR3A have been associated with childhood‐onset hypomyelinating leukodystrophies and adolescent‐to‐adult‐onset spastic ataxia, the latter of which has been linked to the intronic variant c.1909 + 22G>A. We report a case of adult‐onset spastic ataxia in a 75‐year‐old man, b...

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Detalles Bibliográficos
Autores principales: Sytsma, Trevor M., Chen, Dong‐Hui, Rolf, Bradley, Dorschner, Michael, Jayadev, Suman, Keene, C. Dirk, Zhang, Jing, Bird, Thomas D., Latimer, Caitlin S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons Australia, Ltd 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8810698/
https://www.ncbi.nlm.nih.gov/pubmed/34753215
http://dx.doi.org/10.1111/neup.12775

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8810698/
https://www.ncbi.nlm.nih.gov/pubmed/34753215
http://dx.doi.org/10.1111/neup.12775

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