Adult-onset Krabbe disease presenting with progressive myoclonic epilepsy and asymmetric occipital lesions: A case report

Krabbe disease (KD), also known as globoid cell leukodystrophy, is a rare autosomal recessive condition caused by mutations in the galactocerebrosidase (GALC) gene. KD is more common in infants and young children than in adults. We reported the case of an adult-onset KD presenting with progressive m...

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Detalles Bibliográficos
Autores principales: Wang, Yu, Wang, Su-yue, Li, Kai, Zhu, Yu-long, Xia, Kun, Sun, Dan-dan, Ai, Wen-long, Fu, Xiao-ming, Ye, Qun-rong, Li, Jun, Chen, Huai-zhen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9633861/
https://www.ncbi.nlm.nih.gov/pubmed/36341094
http://dx.doi.org/10.3389/fneur.2022.1010150

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9633861/
https://www.ncbi.nlm.nih.gov/pubmed/36341094
http://dx.doi.org/10.3389/fneur.2022.1010150

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