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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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Kathrine O. Eriksen, Andreas Reidar Wigers, Iselin Marie Wedding, Anne Kjersti Erichsen, Tuva Barøy, Kristoffer Søberg, Øystein Kalsnes Jørstad
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2022-06-01
Saila:American Journal of Ophthalmology Case Reports
Gaiak:
Optic nerve atrophy
Hereditary optic neuropathy
Hereditary spastic paraplegia
Spastic paraplegia 7
SPG7 gene
Sarrera elektronikoa:http://www.sciencedirect.com/science/article/pii/S2451993622001463
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