| Literature DB >> 14978679 |
Anne-Fleur van Rootselaar1, Eleonora Aronica, Ernst N H Jansen Steur, Johanna M Rozemuller-Kwakkel, Rob A I de Vos, Marina A J Tijssen.
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.Entities:
Mesh:
Year: 2004 PMID: 14978679 DOI: 10.1002/mds.10662
Source DB: PubMed Journal: Mov Disord ISSN: 0885-3185 Impact factor: 10.338