DRPLA: understanding the natural history and developing biomarkers to accelerate therapeutic trials in a globally rare repeat expansion disorder

Dentatorubral–pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder caused by CAG repeat expansions in the atrophin-1 gene and is inherited in an autosomal dominant fashion. There are currently no disease-modifying treatments available. The broad development of therapies for DRPLA, as...

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Detalles Bibliográficos
Autores principales: Chaudhry, Aiysha, Anthanasiou-Fragkouli, Alkyoni, Houlden, Henry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Neurological Update
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8289787/
https://www.ncbi.nlm.nih.gov/pubmed/33106889
http://dx.doi.org/10.1007/s00415-020-10218-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8289787/
https://www.ncbi.nlm.nih.gov/pubmed/33106889
http://dx.doi.org/10.1007/s00415-020-10218-6

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