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Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy
Leanne M Dibbens1, Ioannis Karakis, Marta A Bayly
1Epilepsy Research Program, South Australia Pathology at the Women's and Children's Hospital, North Adelaide, South Australia, Australia.
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.
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