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Familial cortical tremor with epilepsy and cerebellar pathological findings
Anne-Fleur van Rootselaar1, Eleonora Aronica, Ernst N H Jansen Steur
1Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.
Abstract:
The clinical and neuropathological findings in a patient with familial cortical tremor with epilepsy (FCTE) are described. Clinically, the patient showed cortical myoclonus, tremor, and generalized seizures. Pathological investigation showed cerebellar degeneration and somal sprouting and loss of dendritic tree in Purkinje cells. Striking similarities were found in diseases caused by channelopathies such as spinocerebellar ataxia subtype 6.
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