Parents

The best known condition associated to the PRICKLE1 gene is the so-called Progressive myoclonus epilepsy (PME)-ataxia syndrome (also known as progressive myoclonic epilepsy-1B, or EPM1B).

The first symptoms of this syndrome are usually problems with balance and coordination (ataxia) which begin before the age of 5.

Later, children may develop recurrent seizures (epilepsy) and involuntary muscle jerks or twitches (myoclonus).

The frequency of PME with ataxia syndrome 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. Typically this condition is inherited in an autosomal recessive pattern, which means that both copies of the PRICKLE1 gene have mutations. Each parent of an individual with an autosomal recessive condition carries one copy of the mutated gene, usually with no evidence of the condition.

Mutations of the PRICKLE1 gene have been also associated with other disorders, including brain and nervous system malformations and autism spectrum disorder. The exact prevalence of this conditions is still not known, and they are often considered autosomal dominant, which means that just one copy of the mutated gene is enough to cause the disorder. These cases result from new mutations in the gene, while usually there are not other people with the disorder in their family.