Pontocerebellar Hypoplasia, Type 1A (VRK1)
Pontocerebellar hypoplasia, type 1A is an autosomal recessive neurodegenerative disorder that is caused by pathogenic variants in the gene VRK1. While it is found in different ethnicities around the world, it is more prevalent in individuals of Ashkenazi Jewish descent due to the presence of a founder mutation. Symptoms are caused by brain malformations and degeneration of anterior horn cells in the spinal cord. Onset occurs at birth. Patients exhibit hypotonia and ataxia, and have difficulty eating and breathing. Infants exhibit little or no development over the course of their lives. The disease is progressive and death occurs in infancy or childhood. No genotype-phenotype relationship is known.
For information about carrier frequency and residual risk, please see the residual risk table.