Familial Cortical Myoclonic Tremor with Epilepsy and Cerebellar Changes: Description of a New Pathology Case and Review of the Literature

<p><strong>Background:</strong> Over 60 Asian and European families with cortical myoclonic tremor and epilepsy have been reported under various names. Cerebellar changes may be part of the syndrome. In this study, we report the neuropathology findings in a new Dutch famil...

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Main Authors:	Sarvi Sharifi, Eleonora Aronica, Johannes H. T. M. Koelman, Marina A. J. Tijssen, Anne-Fleur van Rootselaar
Format:	Article
Language:	English
Published:	Ubiquity Press 2012-08-01
Series:	Tremor and Other Hyperkinetic Movements
Online Access:	https://tremorjournal.org/index.php/tremor/article/view/82

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spelling	doaj-0cfb49996d0240518058b1725b2e0c9e2021-04-02T14:08:57ZengUbiquity PressTremor and Other Hyperkinetic Movements2160-82882012-08-01210.7916/D8ST7NKK54Familial Cortical Myoclonic Tremor with Epilepsy and Cerebellar Changes: Description of a New Pathology Case and Review of the LiteratureSarvi Sharifi0Eleonora Aronica1Johannes H. T. M. Koelman2Marina A. J. Tijssen3Anne-Fleur van Rootselaar4Academic Medical Center, University of AmsterdamAcademic Medical Center, University of Amsterdam and Stichting Epilepsie Instellingen Nederland, HeemstedeAcademic Medical Center, University of AmsterdamAcademic Medical Center, University of AmsterdamAcademic Medical Center, University of Amsterdam<p><strong>Background:</strong> Over 60 Asian and European families with cortical myoclonic tremor and epilepsy have been reported under various names. Cerebellar changes may be part of the syndrome. In this study, we report the neuropathology findings in a new Dutch familial cortical myoclonic tremor with epilepsy case and review the literature on this syndrome.</p><p><strong>Methods:</strong> Neuropathological investigations were performed for a third case of the Dutch pedigree. In addition, we searched the literature for pedigrees meeting the criteria for benign familial myoclonic tremor and epilepsy.</p><p><strong>Results:</strong> Our third Dutch case showed cerebellar Purkinje cell changes and a normal cerebral cortex. The pedigrees described show phenotypical differences, cerebellar symptoms and cerebellar atrophy to a variable degree. Japanese pedigrees with linkage to chromosome 8q have been reported with milder disease features than members of Italian pedigrees with linkage to chromosome 2p. French pedigrees (5p) possibly show even more severe and progressive disease, including cognitive changes and cerebellar features.</p><p><strong>Discussion:</strong> Currently, familial cortical myoclonic tremor is not listed by the International League Against Epilepsy, although it can be differentiated from other epileptic syndromes. Genetic heterogeneity and phenotypical differences between pedigrees exist. Cerebellar changes seem to be part of the syndrome in at least a number of pedigrees.</p>https://tremorjournal.org/index.php/tremor/article/view/82
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Sarvi Sharifi Eleonora Aronica Johannes H. T. M. Koelman Marina A. J. Tijssen Anne-Fleur van Rootselaar
spellingShingle	Sarvi Sharifi Eleonora Aronica Johannes H. T. M. Koelman Marina A. J. Tijssen Anne-Fleur van Rootselaar Familial Cortical Myoclonic Tremor with Epilepsy and Cerebellar Changes: Description of a New Pathology Case and Review of the Literature Tremor and Other Hyperkinetic Movements
author_facet	Sarvi Sharifi Eleonora Aronica Johannes H. T. M. Koelman Marina A. J. Tijssen Anne-Fleur van Rootselaar
author_sort	Sarvi Sharifi
title	Familial Cortical Myoclonic Tremor with Epilepsy and Cerebellar Changes: Description of a New Pathology Case and Review of the Literature
title_short	Familial Cortical Myoclonic Tremor with Epilepsy and Cerebellar Changes: Description of a New Pathology Case and Review of the Literature
title_full	Familial Cortical Myoclonic Tremor with Epilepsy and Cerebellar Changes: Description of a New Pathology Case and Review of the Literature
title_fullStr	Familial Cortical Myoclonic Tremor with Epilepsy and Cerebellar Changes: Description of a New Pathology Case and Review of the Literature
title_full_unstemmed	Familial Cortical Myoclonic Tremor with Epilepsy and Cerebellar Changes: Description of a New Pathology Case and Review of the Literature
title_sort	familial cortical myoclonic tremor with epilepsy and cerebellar changes: description of a new pathology case and review of the literature
publisher	Ubiquity Press
series	Tremor and Other Hyperkinetic Movements
issn	2160-8288
publishDate	2012-08-01
description	<p><strong>Background:</strong> Over 60 Asian and European families with cortical myoclonic tremor and epilepsy have been reported under various names. Cerebellar changes may be part of the syndrome. In this study, we report the neuropathology findings in a new Dutch familial cortical myoclonic tremor with epilepsy case and review the literature on this syndrome.</p><p><strong>Methods:</strong> Neuropathological investigations were performed for a third case of the Dutch pedigree. In addition, we searched the literature for pedigrees meeting the criteria for benign familial myoclonic tremor and epilepsy.</p><p><strong>Results:</strong> Our third Dutch case showed cerebellar Purkinje cell changes and a normal cerebral cortex. The pedigrees described show phenotypical differences, cerebellar symptoms and cerebellar atrophy to a variable degree. Japanese pedigrees with linkage to chromosome 8q have been reported with milder disease features than members of Italian pedigrees with linkage to chromosome 2p. French pedigrees (5p) possibly show even more severe and progressive disease, including cognitive changes and cerebellar features.</p><p><strong>Discussion:</strong> Currently, familial cortical myoclonic tremor is not listed by the International League Against Epilepsy, although it can be differentiated from other epileptic syndromes. Genetic heterogeneity and phenotypical differences between pedigrees exist. Cerebellar changes seem to be part of the syndrome in at least a number of pedigrees.</p>
url	https://tremorjournal.org/index.php/tremor/article/view/82
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Familial Cortical Myoclonic Tremor with Epilepsy and Cerebellar Changes: Description of a New Pathology Case and Review of the Literature

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