To expand our knowledge of the range of clinical phenotypes associated with vaccinia-related kinase 1 (VRK1) gene mutations.

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.

Genetic testing revealed likely pathogenic variants in the VRK1 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.

We report 2 cases with VRK1 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 VRK1 mutations.

扩大我们对与牛痘相关激酶 1 ( VRK1 ) 基因突变相关的临床表型范围的了解。

我们提供了 2 名缓慢进行性虚弱和符合成人发病的脊髓性肌萎缩症但无脑桥小脑萎缩症的临床综合征的临床和分子数据。

基因检测揭示了两个受试者中VRK1基因中可能的致病变异。一名个体携带纯合 p.R321C (c.961 C>T)，可能是致病变异。另一个携带复合杂合子 p.V236M (c.706 G>A) 和 p.R321C (c.961 C>T)，可能是致病变异。值得注意的是，两名患者都是西班牙裔。

我们报告了 2 例具有VRK1突变的病例，这些病例表现为成人发病的脊髓性肌萎缩而无脑桥小脑发育不全，并回顾了类似病例的当前文献。我们的报告扩展了与VRK1突变相关的神经系统疾病的临床范围。