Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations

We describe an Italian family with adult‐onset pure hereditary spastic paraplegia due to biallelic variants in POLR3A gene [c.1909 + 22G > A and c.3839dupT (p.M1280fs*20]. MRI showed a mild hyperintensity of superior cerebellar peduncles and cervical spinal cord atrophy. The neurophysiological me...

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Detalles Bibliográficos
Autores principales: Ruggiero, Lucia, Iovino, Aniello, Dubbioso, Raffaele, Cocozza, Sirio, Trovato, Rosanna, Aruta, Francesco, Pontillo, Giuseppe, Barghigiani, Melissa, Brunetti, Arturo, Santorelli, Filippo Maria, Manganelli, Fiore, Iodice, Rosa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7664249/
https://www.ncbi.nlm.nih.gov/pubmed/33085208
http://dx.doi.org/10.1002/acn3.51221

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7664249/
https://www.ncbi.nlm.nih.gov/pubmed/33085208
http://dx.doi.org/10.1002/acn3.51221

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