Familial cortical tremor with epilepsy and cerebellar pathological findings

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

doi:10.1002/mds.10662

Familial cortical tremor with epilepsy and cerebellar pathological findings

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

Pathology

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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.

Original language	English
Pages (from-to)	213-217
Number of pages	5
Journal	Movement Disorders
Volume	19
Issue number	2
DOIs	https://doi.org/10.1002/mds.10662
Publication status	Published - 19 Mar 2004

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10.1002/mds.10662

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title = "Familial cortical tremor with epilepsy and cerebellar pathological findings",

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.",

keywords = "Cortical tremor, Epilepsy, Myoclonus, Neuropathology",

author = "{van Rootselaar}, {Anne Fleur} and Eleonora Aronica and {Jansen Steur}, {Ernst N.H.} and Rozemuller-Kwakkel, {Johanna M.} and {de Vos}, {Rob A.I.} and Tijssen, {Marina A.J.}",

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AU - van Rootselaar, Anne Fleur

AU - Aronica, Eleonora

AU - Jansen Steur, Ernst N.H.

AU - Rozemuller-Kwakkel, Johanna M.

AU - de Vos, Rob A.I.

AU - Tijssen, Marina A.J.

PY - 2004/3/19

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N2 - 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.

AB - 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.

KW - Cortical tremor

KW - Epilepsy

KW - Myoclonus

KW - Neuropathology

UR - http://www.scopus.com/inward/record.url?scp=1542360720&partnerID=8YFLogxK

U2 - 10.1002/mds.10662

DO - 10.1002/mds.10662

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SN - 0885-3185

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SP - 213

EP - 217

JO - Movement Disorders

JF - Movement Disorders

IS - 2

ER -

Familial cortical tremor with epilepsy and cerebellar pathological findings

Abstract

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