Familial cortical tremor with epilepsy and cerebellar pathological findings

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 de...

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Veröffentlicht in:Movement disorders 2004-02, Vol.19 (2), p.213-217
Hauptverfasser: van Rootselaar, Anne-Fleur, Aronica, Eleonora, Jansen Steur, Ernst N.H., Rozemuller-Kwakkel, Johanna M., de Vos, Rob A.I., Tijssen, Marina A.J.
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Sprache:eng
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Zusammenfassung: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. © 2003 Movement Disorder Society
ISSN:0885-3185
1531-8257
DOI:10.1002/mds.10662