So far, the treatment of PRICKLE1-related conditions remains symptomatic (e.g. pharmacological treatment of myoclonus and seizures in PME with ataxia syndrome), since there is no etiological treatment available.
In contrast with other PMEs treatments, which typically relies on 2 or more antiepileptic drugs, PRICKLE1-related PME usually respond, at least partially, to monotherapies with valproic acid, due to its high effectiveness on myoclonus, seizures, and photosensitivity. Topiramate, ACTH and clonazepam have also been given, with partial responses in drug-resistant cases.
On the contrary, phenytoin, carbamazepine, vigabatrin and lamotrigine should be avoided since they may worsen myoclonic seizures and/or the cerebellar impairment.
In case of significant photosensitivity, avoidance of bright lights and striped visual patterns as well as use of tinted spectacles should be suggested.
Ataxia is usually one of the first signs of EPM-1B, often preceding the seizures onset, and it should be closely monitored due to its progressive nature. Patients may indeed require assistive devices or eventually wheelchair. Moreover, consultation with a speech pathologist can often be helpful to manage dysarthria.
In consideration of the above mentioned broader phenotypic spectrum of PRICKLE1-related conditions (including neuropathies, CNS malformations and neurodevelopmental disorders), thorough neurophysiological, neuroanatomical and neuropsychological evaluations should be carefully considered in these patients. Similarly, genetic counseling is recommended for patients and their families.
As a consequence, supportive and rehabilitative measures towards specific disabilities, as well as social and psychological support, are paramount.
PRICKLE1