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 dendritic tree in Purkinje cells. Striking similarities were found in diseases caused by channelopathies such as spinocerebellar ataxia subtype 6.
Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.
Anne-Fleur
AF
van Rootselaar
Eleonora
E
Aronica
Ernst N H
EN
Jansen Steur
Johanna M
JM
Rozemuller-Kwakkel
Rob A I
RA
de Vos
Marina A J
MA
Tijssen
D000368:Aged; D002531:Cerebellum / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D003712:Dendrites / Q000502:physiology; D004831:Epilepsies, Myoclonic / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D004829:Epilepsy, Generalized / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D020329:Essential Tremor / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D007124:Immunoenzyme Techniques; D009416:Nerve Regeneration / Q000235:genetics; D009426:Netherlands; D010375:Pedigree; D011689:Purkinje Cells / Q000473:pathology; D013132:Spinocerebellar Degenerations / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology