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Familial cortical tremor with epilepsy and cerebellar pathological findings
Author(s) -
van Rootselaar AnneFleur,
Aronica Eleonora,
Jansen Steur Ernst N.H.,
RozemullerKwakkel Johanna M.,
de Vos Rob A.I.,
Tijssen Marina A.J.
Publication year - 2004
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.10662
Subject(s) - epilepsy , pathological , myoclonus , neuroscience , cerebellar ataxia , cerebellar cortex , ataxia , medicine , cerebellar degeneration , cerebellum , neurological disorder , spinocerebellar ataxia , cortex (anatomy) , pathology , psychology , central nervous system disease
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