A novel homozygous variant in the SPG7 gene presenting with childhood optic nerve atrophy

PURPOSE: To describe a case of hereditary spastic ataxia (HSP) presenting with childhood optic nerve atrophy and report a novel homozygous variant in the SPG7 gene. OBSERVATIONS: A 57-year-old man suffering from progressive optic nerve atrophy since childhood eventually underwent genetic testing. A...

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Detalles Bibliográficos
Autores principales: Eriksen, Kathrine O., Wigers, Andreas Reidar, Wedding, Iselin Marie, Erichsen, Anne Kjersti, Barøy, Tuva, Søberg, Kristoffer, Jørstad, Øystein Kalsnes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8861420/
https://www.ncbi.nlm.nih.gov/pubmed/35243150
http://dx.doi.org/10.1016/j.ajoc.2022.101400

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8861420/
https://www.ncbi.nlm.nih.gov/pubmed/35243150
http://dx.doi.org/10.1016/j.ajoc.2022.101400

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