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

Hdl Handle:
http://hdl.handle.net/10147/198736
Title:
Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy.
Authors:
Dibbens, Leanne M; Karakis, Ioannis; Bayly, Marta A; Costello, Daniel J; Cole, Andrew J; Berkovic, Samuel F
Affiliation:
Epilepsy Research Program, South Australia Pathology at the Women's and Children's Hospital, North Adelaide, South Australia, Australia.
Citation:
Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy. 2011, 68 (6):812-3 Arch. Neurol.
Journal:
Archives of neurology
Issue Date:
Jun-2011
URI:
http://hdl.handle.net/10147/198736
DOI:
10.1001/archneurol.2011.120
PubMed ID:
21670406
Abstract:
To report the detection of mutations in the SCARB2 gene in a previously described patient with progressive myoclonus epilepsy (PME) and demyelinating peripheral neuropathy.; Case report.; Epilepsy Genetics Research Laboratory and Epilepsy Service in a tertiary care center.; A 27-year old male patient with PME with preserved intellect and peripheral neuropathy.; 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.; Demyelinating neuropathy is a clinical clue to the presence of SCARB2 mutations in PME.
Item Type:
Article
Language:
en
Description:
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.
MeSH:
Adult; Demyelinating Diseases; Genetic Predisposition to Disease; Humans; Lysosome-Associated Membrane Glycoproteins; Male; Mutation; Myoclonic Epilepsies, Progressive; Pedigree; Peripheral Nervous System Diseases; Prognosis; Receptors, Scavenger
ISSN:
1538-3687

Full metadata record

DC FieldValue Language
dc.contributor.authorDibbens, Leanne Men
dc.contributor.authorKarakis, Ioannisen
dc.contributor.authorBayly, Marta Aen
dc.contributor.authorCostello, Daniel Jen
dc.contributor.authorCole, Andrew Jen
dc.contributor.authorBerkovic, Samuel Fen
dc.date.accessioned2011-12-22T15:29:08Z-
dc.date.available2011-12-22T15:29:08Z-
dc.date.issued2011-06-
dc.identifier.citationMutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy. 2011, 68 (6):812-3 Arch. Neurol.en
dc.identifier.issn1538-3687-
dc.identifier.pmid21670406-
dc.identifier.doi10.1001/archneurol.2011.120-
dc.identifier.urihttp://hdl.handle.net/10147/198736-
dc.descriptionOBJECTIVE: 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.en
dc.description.abstractTo report the detection of mutations in the SCARB2 gene in a previously described patient with progressive myoclonus epilepsy (PME) and demyelinating peripheral neuropathy.-
dc.description.abstractCase report.-
dc.description.abstractEpilepsy Genetics Research Laboratory and Epilepsy Service in a tertiary care center.-
dc.description.abstractA 27-year old male patient with PME with preserved intellect and peripheral neuropathy.-
dc.description.abstractWe 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.-
dc.description.abstractDemyelinating neuropathy is a clinical clue to the presence of SCARB2 mutations in PME.-
dc.language.isoenen
dc.subject.meshAdult-
dc.subject.meshDemyelinating Diseases-
dc.subject.meshGenetic Predisposition to Disease-
dc.subject.meshHumans-
dc.subject.meshLysosome-Associated Membrane Glycoproteins-
dc.subject.meshMale-
dc.subject.meshMutation-
dc.subject.meshMyoclonic Epilepsies, Progressive-
dc.subject.meshPedigree-
dc.subject.meshPeripheral Nervous System Diseases-
dc.subject.meshPrognosis-
dc.subject.meshReceptors, Scavenger-
dc.titleMutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy.en
dc.typeArticleen
dc.contributor.departmentEpilepsy Research Program, South Australia Pathology at the Women's and Children's Hospital, North Adelaide, South Australia, Australia.en
dc.identifier.journalArchives of neurologyen
dc.description.provinceMunster-

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