<scp>N</scp>omenclature of genetic movement disorders: <scp>R</scp>ecommendations of the international <scp>P</scp>arkinson and movement disorder society task force

Marras, Connie; Lang, Anthony E.; Warrenburg, Bart P. van de; Sue, Carolyn M.; Tabrizi, Sarah J.; Bertram, Lars; Mercimek-Mahmutoglu, Saadet; Ebrahimi‐Fakhari, Darius; Warner, Thomas T.; Dürr, Alexandra; Assmann, Birgit; Lohmann, Katja; Kostić, Vladimir; Klein, Christine

doi:10.1002/mds.26527

Cited by 240 publications

(183 citation statements)

References 212 publications

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“…of the predominant motor manifestation. Recent advances in genetic, molecular and imaging studies have allowed a better understanding of the similarities and differences between them 3 . It has been suggested that LID, dystonia and HD share several molecular and synaptic abnormalities, which may seem surprising since distinct neuronal subtypes are affected by the different pathologies.…”

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confidence: 99%

“…Dystonia can be classified by age at onset, by distribution (focal, segmental, generalized or hemidystonia) or by etiology (idiopathic or secondary) 28 . Most idiopathic dystonias are believed to have genetic origins 3 . The discovery of genes implicated in dystonia as well as the experimental use of new genetic models has provided information about the disease mechanisms 29 .…”

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confidence: 99%

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Hyperkinetic disorders and loss of synaptic downscaling

Calabresi

Pisani

Rothwell³

et al. 2016

Nat Neurosci

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Recent clinical and preclinical studies have shown that hyperkinetic disorders such as Huntington's disease, dystonia and l-DOPA-induced dyskinesia in Parkinson's disease are all characterized by loss of the ability to reverse synaptic plasticity and an associated increase in the excitability of excitatory neuronal inputs to a range of cortical and subcortical brain areas. Moreover, these changes have been detected in humans with hyperkinetic disorders either via direct recordings from implanted deep brain electrodes or noninvasively using transcranial magnetic stimulation. Here we discuss the mechanisms underlying the loss of bidirectional plasticity and the possibility that future interventions could be devised to reverse these changes in patients with hyperkinetic movement disorders.

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confidence: 99%

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confidence: 99%

Hyperkinetic disorders and loss of synaptic downscaling

Calabresi

Pisani

Rothwell³

et al. 2016

Nat Neurosci

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“…Each of these classification systems bears in itself the same problems known from similar classification systems of other movement disorders (for a broader discussion, see the analysis by the International Parkinson and Movement Disorder Society Task Force 2 ). These include (1) erroneously assigned loci, (2) duplicated loci, (3) missing symbols or loci, and (4) unconfirmed loci and genes.…”

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confidence: 99%

“…These include (1) erroneously assigned loci, (2) duplicated loci, (3) missing symbols or loci, and (4) unconfirmed loci and genes. 2 For example, some recessive ataxias are not contained in the SCAR or the ARCA list (eg, Friedreich’s ataxia or AOA1), and some recessive ataxias are listed only in one of them (eg, AOA2 only in SCAR classification). Moreover, some dominant ataxias can also be inherited in a recessive manner and vice versa ( GRID2 , 3 AFG3L2 , 4 SPTBN2 5 ), making it difficult to designate them as either on the SCA or the SCAR/ARCA list (or both).…”

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Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways

2017

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Autosomal-dominant spinocerebellar ataxias, autosomal-recessive spinocerebellar ataxias, and hereditary spastic paraplegias have traditionally been designated in separate clinicogenetic disease classifications. This classification system still largely frames clinical thinking and genetic workup in clinical practice. Yet, with the advent of next-generation sequencing, phenotypically unbiased studies have revealed the limitations of this classification system. Various genes (eg, SPG7, SYNE1, PNPLA6) traditionally rooted in either the ataxia or hereditary spastic paraplegia classification system have now been shown to cause ataxia on the one end of the disease continuum and hereditary spastic paraplegia on the other. Other genes such as GBA2 and KIF1C were almost simultaneously published as both a hereditary spastic paraplegia and an ataxia gene. The variability and fluidity of observed phenotypes along the ataxia-spasticity spectrum warrants a rethinking of the traditional classification system. We propose to replace this divisive diagnosis-driven ataxia and hereditary spastic paraplegia classification system by a descriptive, unbiased approach of modular phenotyping. This approach is also open to expansion of the phenotype beyond ataxia and spasticity, which often occur as part of broader multisystem neuronal dysfunction. The concept of a continuous ataxia-spasticity disease spectrum is further supported by ataxias and hereditary spastic paraplegias sharing not only overlapping phenotypes and underlying genes, but also common cellular pathways and disease mechanisms. This suggests a shared vulnerability of cerebellar and corticospinal neurons for common pathophysiological processes. It might be this mechanistic overlap that drives their clinical overlap. A mechanistically inspired classification system will help to pave the way for mechanism-based strategies for drug development.

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“…2,[5][6][7]9,10 Os níveis de evidência apontados para cada recomendação são os utilizados de forma padronizada a nível internacional. Sempre que não existam dados de Medicina Baseada na Evidência os peritos envolvidos na elaboração destas linhas de orientação emitiram uma recomendação consensual baseada na sua própria experiência e conhecimentos (boa prática clínica).…”

Section: Estudo Genético Etiológico Nas Distonias Primárias: Recomendunclassified

Estudo Genético nas Distonias Primárias: Recomendações do Grupo de Neurogenética do Centro Hospitalar São João

et al. 2017

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RESUMOAs distonias primárias são um grupo particular de distonias, de etiologia presumivelmente genética e com sintomas que podem surgir em diversas idades e progredir durante um período variável de tempo. O seu diagnóstico constitui, por isso, um desafio, colocando-se frequentemente na prática clínica a questão da realização do estudo genético. Nos últimos anos foram identificadas várias mutações genéticas causadoras de distonia primária. A escolha do teste molecular é complexa, quer pela especificidade clínica e baixa frequên-cia, quer pelo custo associado ao estudo genético. Esta escolha deve ser feita mediante observação especializada por médicos com elevada diferenciação nesta área, apoiada num plano racional de investigação. O Grupo de Neurogenética do Centro Hospitalar São João (grupo multidisciplinar de Neurologistas e Geneticistas com interesse especial na área das doenças neurogenéticas) delineou recomendações de consenso para a investigação da etiologia genética das distonias primárias, tendo por base documentos de consenso internacionais e a evidência científica entretanto publicada. Este documento adota o novo sistema de nomenclatura para as formas genéticas de doenças do movimento, permitindo a sua utilização padronizada e sistemática na prática clínica. Palavras-chave: Consenso; Distonia/diagnóstico; Distonia/genética; Portugal ABSTRACTThe primary dystonias are a particular group of dystonias of presumed genetic origin, with a wide age of onset and variable progression. The diagnosis is, therefore, a challenge and the issue of the genetic investigation presents frequently in clinical practice. In the past few years several gene mutations have been identified as causative of primary dystonias. The choice of molecular testing is complex, given the clinical specificities and low frequency of these entities and the cost of genetic testing. It must follow observation by specialized clinicians highly differentiated in this area and be supported by a rational plan of investigation. The Centro Hospitalar São João Neurogenetics Group, a multidisciplinary team of Neurologists and Geneticists with special interest in neurogenetic disorders, devised consensus recommendations for the investigation of the genetic etiology of the primary dystonias, based on international consensus documents and recent published scientific evidence. This manuscript adopts the new classification system for genetic movement disorders, allowing for its systematic and standardized use in clinical practice. Keywords: Consensus; Dystonia/diagnóstico; Dystonia/genetics; Portugal INTRODUÇÃOA distonia é definida como uma doença do movimento hipercinética caracterizada pela contração muscular involuntária, intermitente ou sustentada, causando movimentos repetitivos e/ou posturas anormais. Os movimentos distóni-cos são tipicamente estereotipados, geralmente em torção ou causando tremor. A distonia é muitas vezes iniciada ou agravada pelos movimentos voluntários, associada a ativação muscular de overflow, podendo surgir apenas em tarefas esp...

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Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force

Cited by 240 publications

References 212 publications

Hyperkinetic disorders and loss of synaptic downscaling

Hyperkinetic disorders and loss of synaptic downscaling

Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways

Estudo Genético nas Distonias Primárias: Recomendações do Grupo de Neurogenética do Centro Hospitalar São João

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