Familial cortical tremor with epilepsy and cerebellar pathological findings.
作者信息
van Rootselaar Anne-Fleur, Aronica Eleonora, Jansen Steur Ernst N H, Rozemuller-Kwakkel Johanna M, de Vos Rob A I, Tijssen Marina A J
机构信息
Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.
出版信息
Mov Disord. 2004 Feb;19(2):213-7. doi: 10.1002/mds.10662.
PMID:14978679
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.
摘要
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