AI Article Synopsis
- Infantile striatonigral degeneration is linked to a specific genetic mutation (homozygous variant in NUP62) affecting nuclear-pore complex function, which plays a key role in cellular transport.
- Researchers found similar mutations in another gene, NUP54, in three unrelated patients showing symptoms consistent with NUP62-related diseases, such as early-onset dystonia and striatal lesions.
- Additional studies confirmed that these variants are pathogenic, highlighting a broader range of dystonic conditions associated with nuclear-pore complex abnormalities.
Article Abstract
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.
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| http://dx.doi.org/10.1002/ana.26544 | DOI Listing |
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