Nomenclature of Genetically Determined Myoclonus Syndromes : Recommendations of the International Parkinson and Movement Disorder Society Task Force
(2019) In Movement Disorders 34(11). p.1602-1613- Abstract
Genetically determined myoclonus disorders are a result of a large number of genes. They have wide clinical variation and no systematic nomenclature. With next-generation sequencing, genetic diagnostics require stringent criteria to associate genes and phenotype. To improve (future) classification and recognition of genetically determined movement disorders, the Movement Disorder Society Task Force for Nomenclature of Genetic Movement Disorders (2012) advocates and renews the naming system of locus symbols. Here, we propose a nomenclature for myoclonus syndromes and related disorders with myoclonic jerks (hyperekplexia and myoclonic epileptic encephalopathies) to guide clinicians in their diagnostic approach to patients with these... (More)
Genetically determined myoclonus disorders are a result of a large number of genes. They have wide clinical variation and no systematic nomenclature. With next-generation sequencing, genetic diagnostics require stringent criteria to associate genes and phenotype. To improve (future) classification and recognition of genetically determined movement disorders, the Movement Disorder Society Task Force for Nomenclature of Genetic Movement Disorders (2012) advocates and renews the naming system of locus symbols. Here, we propose a nomenclature for myoclonus syndromes and related disorders with myoclonic jerks (hyperekplexia and myoclonic epileptic encephalopathies) to guide clinicians in their diagnostic approach to patients with these disorders. Sixty-seven genes were included in the nomenclature. They were divided into 3 subgroups: prominent myoclonus syndromes, 35 genes; prominent myoclonus syndromes combined with another prominent movement disorder, 9 genes; disorders that present usually with other phenotypes but can manifest as a prominent myoclonus syndrome, 23 genes. An additional movement disorder is seen in nearly all myoclonus syndromes: ataxia (n = 41), ataxia and dystonia (n = 6), and dystonia (n = 5). However, no additional movement disorders were seen in related disorders. Cognitive decline and epilepsy are present in the vast majority. The anatomical origin of myoclonus is known in 64% of genetic disorders: cortical (n = 34), noncortical areas (n = 8), and both (n = 1). Cortical myoclonus is commonly seen in association with ataxia, and noncortical myoclonus is often seen with myoclonus-dystonia. This new nomenclature of myoclonus will guide diagnostic testing and phenotype classification.
(Less)
- author
- van der Veen, Sterre ; Zutt, Rodi ; Klein, Christine ; Marras, Connie ; Berkovic, Samuel F. ; Caviness, John N. ; Shibasaki, Hiroshi ; de Koning, Tom J. LU and Tijssen, Marina A.J.
- publishing date
- 2019-11-01
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- genetics, hyperekplexia, myoclonic epilepsy, myoclonus, nomenclature
- in
- Movement Disorders
- volume
- 34
- issue
- 11
- pages
- 12 pages
- publisher
- John Wiley & Sons Inc.
- external identifiers
-
- scopus:85073936091
- pmid:31584223
- ISSN
- 0885-3185
- DOI
- 10.1002/mds.27828
- language
- English
- LU publication?
- no
- id
- eac86b88-65b1-4c5a-931f-da005183defc
- date added to LUP
- 2020-01-28 09:48:01
- date last changed
- 2024-03-04 12:42:12
@article{eac86b88-65b1-4c5a-931f-da005183defc,
abstract = {{<p>Genetically determined myoclonus disorders are a result of a large number of genes. They have wide clinical variation and no systematic nomenclature. With next-generation sequencing, genetic diagnostics require stringent criteria to associate genes and phenotype. To improve (future) classification and recognition of genetically determined movement disorders, the Movement Disorder Society Task Force for Nomenclature of Genetic Movement Disorders (2012) advocates and renews the naming system of locus symbols. Here, we propose a nomenclature for myoclonus syndromes and related disorders with myoclonic jerks (hyperekplexia and myoclonic epileptic encephalopathies) to guide clinicians in their diagnostic approach to patients with these disorders. Sixty-seven genes were included in the nomenclature. They were divided into 3 subgroups: prominent myoclonus syndromes, 35 genes; prominent myoclonus syndromes combined with another prominent movement disorder, 9 genes; disorders that present usually with other phenotypes but can manifest as a prominent myoclonus syndrome, 23 genes. An additional movement disorder is seen in nearly all myoclonus syndromes: ataxia (n = 41), ataxia and dystonia (n = 6), and dystonia (n = 5). However, no additional movement disorders were seen in related disorders. Cognitive decline and epilepsy are present in the vast majority. The anatomical origin of myoclonus is known in 64% of genetic disorders: cortical (n = 34), noncortical areas (n = 8), and both (n = 1). Cortical myoclonus is commonly seen in association with ataxia, and noncortical myoclonus is often seen with myoclonus-dystonia. This new nomenclature of myoclonus will guide diagnostic testing and phenotype classification.</p>}},
author = {{van der Veen, Sterre and Zutt, Rodi and Klein, Christine and Marras, Connie and Berkovic, Samuel F. and Caviness, John N. and Shibasaki, Hiroshi and de Koning, Tom J. and Tijssen, Marina A.J.}},
issn = {{0885-3185}},
keywords = {{genetics; hyperekplexia; myoclonic epilepsy; myoclonus; nomenclature}},
language = {{eng}},
month = {{11}},
number = {{11}},
pages = {{1602--1613}},
publisher = {{John Wiley & Sons Inc.}},
series = {{Movement Disorders}},
title = {{Nomenclature of Genetically Determined Myoclonus Syndromes : Recommendations of the International Parkinson and Movement Disorder Society Task Force}},
url = {{http://dx.doi.org/10.1002/mds.27828}},
doi = {{10.1002/mds.27828}},
volume = {{34}},
year = {{2019}},
}