Infantile striatonigral degeneration is caused by a homozygous variant of the nuclear-pore complex (NPC) gene NUP62, involved in nucleo-cytoplasmic trafficking. By querying sequencing-datasets of patients with dystonia and/or Leigh(-like) syndromes, we identified 3 unrelated individuals with biallelic variants in NUP54. All variants clustered in the C-terminal protein region that interacts with NUP62. Associated phenotypes were similar to those of NUP62-related disease, including early-onset dystonia with dysphagia, choreoathetosis, and T2-hyperintense lesions in striatum. In silico and protein-biochemical studies gave further evidence for the argument that the variants were pathogenic. We expand the spectrum of NPC component-associated dystonic conditions with localized basal-ganglia abnormalities. ANN NEUROL 2023;93:330–335.
CITATION STYLE
Harrer, P., Schalk, A., Shimura, M., Baer, S., Calmels, N., Spitz, M. A., … Zech, M. (2023). Recessive NUP54 Variants Underlie Early-Onset Dystonia with Striatal Lesions. Annals of Neurology, 93(2), 330–335. https://doi.org/10.1002/ana.26544
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