AI Article Synopsis
- The study aims to enhance understanding of clinical phenotypes linked to mutations in the vaccinia-related kinase 1 gene.
- Two individuals with progressive weakness showed symptoms resembling adult-onset spinal muscular atrophy, and genetic tests revealed likely pathogenic variants in both cases.
- The findings suggest that these mutations can cause neurologic disorders beyond previously documented cases, particularly highlighting the condition in patients of Hispanic descent.
Article Abstract
Objective: To expand our knowledge of the range of clinical phenotypes associated with vaccinia-related kinase 1 () gene mutations.
Methods: We present clinical and molecular data of 2 individuals with slowly progressive weakness and a clinical syndrome consistent with adult-onset spinal muscular atrophy without pontocerebellar atrophy.
Results: Genetic testing revealed likely pathogenic variants in the gene in both subjects. One individual carried homozygous p.R321C (c.961 C>T), likely pathogenic variants. The other carried compound heterozygous p.V236M (c.706 G>A) and p.R321C (c.961 C>T), likely pathogenic variants. Notably, both patients were of Hispanic descent.
Conclusions: We report 2 cases with mutations presenting as adult-onset spinal muscular atrophy without pontocerebellar hypoplasia and review the current literature of similar cases. Our report expands the clinical spectrum of neurologic disorders associated with mutations.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8220962 | PMC |
| http://dx.doi.org/10.1212/NXG.0000000000000599 | DOI Listing |
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