PuSH - Publikationsserver des Helmholtz Zentrums München: Recessive <em>NUP54</em> variants underlie early-onset dystonia with striatal lesions.

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Harrer, P. ; Schalk, A.* ; Shimura, M. ; Baer, S.* ; Calmels, N.* ; Spitz, M.A.* ; Abi Warde, M.T.* ; Schaefer, E.* ; Kittke, V. ; Dincer, Y.* ; Wagner, M. ; Dzinovic, I. ; Berutti, R. ; Sato, T.* ; Shirakawa, T.* ; Okazaki, Y.* ; Murayama, K.* ; Oexle, K. ; Prokisch, H. ; Mall, V.* ; Melčák, I.* ; Winkelmann, J. ; Zech, M.

Recessive NUP54 variants underlie early-onset dystonia with striatal lesions.

Ann. Neurol. 93, 330-335 (2023)

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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 three 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.

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