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.
van Rootselaar
Anne-Fleur
AF
Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.
Aronica
Eleonora
E
Jansen Steur
Ernst N H
EN
Rozemuller-Kwakkel
Johanna M
JM
de Vos
Rob A I
RA
Tijssen
Marina A J
MA
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