Archives of neurology · 2011
Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Dibbens Leanne M, Karakis Ioannis, Bayly Marta A, Costello Daniel J, Cole Andrew J, Berkovic Samuel F
Аннотация
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.
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.