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.
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.
Authors: Franziska Hopfner; Barbara Schormair; Franziska Knauf; Achim Berthele; Thomas R Tölle; Ralf Baron; Christoph Maier; Rolf-Detlef Treede; Andreas Binder; Claudia Sommer; Christian Maihöfner; Wolfram Kunz; Friedrich Zimprich; Uwe Heemann; Arne Pfeufer; Michael Näbauer; Stefan Kääb; Barbara Nowak; Christian Gieger; Peter Lichtner; Claudia Trenkwalder; Konrad Oexle; Juliane Winkelmann Journal: BMC Neurol Date: 2011-10-27 Impact factor: 2.474
Authors: Kurt Gleich; Michael J Desmond; Darren Lee; Samuel F Berkovic; Leanne M Dibbens; Marina Katerelos; Marta A Bayly; Scott A Fraser; Paul Martinello; Danya F Vears; Peter Mount; David A Power Journal: Biores Open Access Date: 2013-02