Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy

Arch Neurol. 2011 Jun;68(6):812-3. doi: 10.1001/archneurol.2011.120.


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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Demyelinating Diseases / complications
  • Demyelinating Diseases / genetics*
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Lysosome-Associated Membrane Glycoproteins / genetics*
  • Male
  • Mutation / genetics*
  • Myoclonic Epilepsies, Progressive / complications
  • Myoclonic Epilepsies, Progressive / genetics*
  • Pedigree
  • Peripheral Nervous System Diseases / complications
  • Peripheral Nervous System Diseases / genetics*
  • Prognosis
  • Receptors, Scavenger / genetics*


  • Lysosome-Associated Membrane Glycoproteins
  • Receptors, Scavenger
  • SCARB2 protein, human