Objective: To report the detection of mutations in the SCARB2 gene in a previously described patient with progressive myoclonus epilepsy (PME) and demyelinating peripheral neuropathy.
Design: Case report.
Setting: Epilepsy Genetics Research Laboratory and Epilepsy Service in a tertiary care center.
Patient: A 27-year old male patient with PME with preserved intellect and peripheral neuropathy.
Results: We have solved a previously reported case of PME, preserved intellect, and demyelinating peripheral neuropathy. The patient is a compound heterozygote for 2 mutations in the SCARB2 gene, which has recently been found to be a cause of PME.
Conclusions: Demyelinating neuropathy is a clinical clue to the presence of SCARB2 mutations in PME.