The best known PRICKLE1-related phenotype is the autosomal recessive progressive myoclonus epilepsy (PME)-ataxia syndrome (MIM 612437), also known as progressive myoclonic epilepsy-1B (EPM1B).
This syndrome is usually characterized by early-onset ataxia, around 2-4 years of age, followed, later in childhood, by action tremor or myoclonus, dysarthria and epileptic seizures.
The prevalence of PRICKLE1-related PME with ataxia is still unknown. This condition has been reported in some consanguineous families in Jordan and northern Israel, but it has been also described in other countries.
Other phenotypes include isolated cases of heterozygous mutations of PRICKLE1 characterized by neural tube defects, agenesis of corpus callosum, polymicrogyria, and autism spectrum disorder. The exact prevalence of this conditions is still undetermined.
PRICKLE1