Rare Gain-of-Function KCND3 Variant Associated with Cerebellar Ataxia, Parkinsonism, Cognitive Dysfunction, and Brain Iron Accumulation

Loss-of-function mutations in the K(V)4.3 channel-encoding KCND3 gene are linked to neurodegenerative cerebellar ataxia. Patients suffering from neurodegeneration associated with iron deposition may also present with cerebellar ataxia. The mechanism underlying brain iron accumulation remains unclear...

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Detalles Bibliográficos
Autores principales: Hsiao, Cheng-Tsung, Tropea, Thomas F., Fu, Ssu-Ju, Bardakjian, Tanya M., Gonzalez-Alegre, Pedro, Soong, Bing-Wen, Tang, Chih-Yung, Jeng, Chung-Jiuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8347726/
https://www.ncbi.nlm.nih.gov/pubmed/34361012
http://dx.doi.org/10.3390/ijms22158247

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8347726/
https://www.ncbi.nlm.nih.gov/pubmed/34361012
http://dx.doi.org/10.3390/ijms22158247

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