Article
A novel homozygous loss-of-function variant in SOD1 causing progressive spastic tetraplegia and axial hypotonia.
Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Aug 2023
Çakar Arman, Pekbilir Emre, Ceylaner Serdar, Durmuş Hacer, Battaloğlu Esra, Şahin Umut, Parman Yeşim
Abstract excerpt
SOD1 is the first identified causative gene for amyotrophic lateral sclerosis. Recently, a novel syndrome, presenting with severe childhood-onset spastic tetraplegia and axial hypotonia caused by the homozygous truncating variants in the SOD1 gene, is described. A 22-month-old boy was admitted with a loss of motor functions that began at the age of 9 months. Neurological was significant for axial hypotonia with...
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