Co-occurrence of CLCN2-related leukoencephalopathy and SPG56

FAMILY REPORT: Two rare autosomal recessive neurological disorders, leukoencephalopathy with ataxia and spastic paraplegia 56 (SPG56), were found in members of the same family. Two siblings presented with spastic paraplegia, cognitive impairment, bladder and bowel dysfunction and gait ataxia; their...

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Detalles Bibliográficos
Autores principales: Almasoudi, Wejdan, Nilsson, Christer, Kjellström, Ulrika, Sandeman, Kevin, Puschmann, Andreas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Short Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9984871/
https://www.ncbi.nlm.nih.gov/pubmed/36879630
http://dx.doi.org/10.1016/j.prdoa.2023.100189

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9984871/
https://www.ncbi.nlm.nih.gov/pubmed/36879630
http://dx.doi.org/10.1016/j.prdoa.2023.100189

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