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

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

Author information

1
Epilepsy Research Program, South Australia Pathology at the Women's and Children's Hospital, North Adelaide, South Australia, Australia.

Abstract

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.

PMID:
21670406
DOI:
10.1001/archneurol.2011.120
[Indexed for MEDLINE]

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