Juvenile Huntington's disease presenting as progressive myoclonic epilepsy
A Gambardella, M Muglia, A Labate, A Magariello… - Neurology, 2001 - AAN Enterprises
Neurology, 2001•AAN Enterprises
A 9-year-old girl, who had no family history of neurologic diseases in the first-degree
relatives, had a 3-year history of progressive myoclonus epilepsy (PME). A thorough
laboratory investigation was normal. As two sisters of her paternal grandmother were said to
have Huntington's disease (HD), the authors looked for HD and found a CAG repeat
expansion of 115 repeats. This diagnosis should be considered in addition to other causes
in patients with PME. Moreover, the current case further supports the notion that HD should …
relatives, had a 3-year history of progressive myoclonus epilepsy (PME). A thorough
laboratory investigation was normal. As two sisters of her paternal grandmother were said to
have Huntington's disease (HD), the authors looked for HD and found a CAG repeat
expansion of 115 repeats. This diagnosis should be considered in addition to other causes
in patients with PME. Moreover, the current case further supports the notion that HD should …
A 9-year-old girl, who had no family history of neurologic diseases in the first-degree relatives, had a 3-year history of progressive myoclonus epilepsy (PME). A thorough laboratory investigation was normal. As two sisters of her paternal grandmother were said to have Huntington’s disease (HD), the authors looked for HD and found a CAG repeat expansion of 115 repeats. This diagnosis should be considered in addition to other causes in patients with PME. Moreover, the current case further supports the notion that HD should be considered even when a family history is not obvious.