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Familial cortical tremor with epilepsy and cerebellar pathological findings

✍ Scribed by Anne-Fleur van Rootselaar; Eleonora Aronica; Ernst N.H. Jansen Steur; Johanna M. Rozemuller-Kwakkel; Rob A.I. de Vos; Marina A.J. Tijssen

Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
623 KB
Volume
19
Category
Article
ISSN
0885-3185

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✦ Synopsis

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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