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Abstract

April - June 2024 | Vol. 17 | Issue 2 | 02-04
Superoxide Dismutase Deficiency due to Biallelic SOD1 Variants
Pallavi Sinha1, Sunita Bijarnia-Mahay1, Hemlata Wadhwani Bhatia2, Saurabh Chopra3
1Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India, 2 Department of Medical Genomics, Max Superspeciality Hospital, Shalimar Bagh, New Delhi, India, 3 Department of Pediatric Neurology, Apollo Hospital, Sarita Vihar, New Delhi, India
Address for Correspondence Email: Bijarnia@gmail.com
 
Abstract
Gain-of-function mutations in superoxide dismutase 1 (SOD1) are typically associated with familial Amyotrophic lateral sclerosis (ALS). Recently a distinct neurodegenerative disorder has been described, occurring due to biallelic loss of function in SOD1, manifesting as spastic tetraplegia with axial hypotonia in childhood. Debate exists regarding its classification, as to whether it is a distinct disorder or a part of the ALS spectrum.
 
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