de Almeida Marcelino AL, Wilpert NM, Leubner J, Boschann F, Ehmke N, Ploner CJ, Mainka T, Schuelke M, Kühn AA.
Mov Disord Clin Pract. 2025 Jul 29. doi: 10.1002/mdc3.70252. Online ahead of print. PMID: 40728085.
Abstract
Biallelic pathogenic variants of SQSTM1 are known to cause a childhood-onset syndrome with neurodegeneration, ataxia, dystonia and gaze palsy, abbreviated as “NDAGP.”1 Since the first description in 2016, over 30 cases have been reported in the literature. Here, we describe a case of subacute onset “NDAGP” after surgery with general anesthesia in a child with a novel homozygous SQSTM1 variant and highlight relevant features that can motivate testing for this gene in clinical practice.
