The Spinal Muscular Atrophy with Pontocerebellar Hypoplasia Gene<i>VRK1</i>Regulates Neuronal Migration through an Amyloid-β Precursor Protein-Dependent Mechanism

Abstract excerpt

Spinal muscular atrophy with pontocerebellar hypoplasia (SMA-PCH) is an infantile SMA variant with additional manifestations, particularly severe microcephaly. We previously identified a nonsense mutation in Vaccinia-related kinase 1 (VRK1), R358X, as a cause of SMA-PCH. VRK1-R358X is a rare founder mutation in Ashkenazi Jews, and additional mutations in patients of different origins have recently been...

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