Excessive fragmentary myoclonus in Machado–Joseph disease

Santos, Diogo Fernandes dos; Pedroso, José Luiz; Braga‐Neto, Pedro; Silva, Giselle Melo Fontes; Carvalho, Luciane Bizari Coin de; Prado, Lucila Bizari Fernandes do; Barsottini, Orlando Graziani Póvoas; Prado, Gilmar Fernandes do

doi:10.1016/j.sleep.2013.09.025

Cited by 14 publications

(11 citation statements)

References 36 publications

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“…A higher prevalence of RLS and/or PLMS has been reported in some cerebellar ataxias when compared with the general population, in particular concerning the most frequent spinocerebellar ataxias (SCA) types, SCA2 and SCA3 . Data regarding SCA1 and SCA6 are limited and controversial, ranging from none or rare RLS or PLMS, to a high prevalence of RLS and increased PLM .…”

Section: Current Developments In the Pathophysiology Of Rlsmentioning

confidence: 99%

Restless legs syndrome and periodic leg movements in patients with movement disorders: Specific considerations

Högl

Stefani

2017

Movement Disorders

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Restless legs syndrome is a frequent neurological disorder with potentially serious and highly distressing treatment complications. The role and potential implications of periodic leg movements during sleep range from being a genetic risk marker for restless legs syndrome to being a cardiovascular risk factor. The diagnosis of restless legs syndrome in patients with daytime movement disorders is challenging and restless legs syndrome needs to be differentiated from other sleep-related movement disorders. This article provides an update on the diagnosis of restless legs syndrome as an independent disorder and the role of periodic leg movements and reviews the association of restless legs syndrome with Parkinson's disease and other movement disorders. © 2017 International Parkinson and Movement Disorder Society.

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Section: Current Developments In the Pathophysiology Of Rlsmentioning

confidence: 99%

Restless legs syndrome and periodic leg movements in patients with movement disorders: Specific considerations

Högl

Stefani

2017

Movement Disorders

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“…Other studies suggest that supraspinal structures could be involved as the site of origin (Frauscher et al, 2011;Merlino & Gigli, 2012;Sobreira-Neto et al, 2015;Vetrugno et al, 2002). This hypothesis is supported by the work of Gassel et al, who showed the effect of deafferentation on myoclonic twitches in cats (Gassel, Marchiafava, & Pompeiano,1964), and in addition by reports of the occurrence of EFM in neurodegenerative diseases associated with the lesions of the brainstem structures, including synucleinopathies such as PD and multiple system atrophy (Pincherle et al, 2006;dos Santos et al, 2014;Sobreira-Neto et al, 2015;Vankova et al, 2003;Vetrugno et al, 2007). Our observations of EFM in iRBD support this hypothesis, because alpha-synuclein abnormalities in the brainstem are assumed to disinhibit the motor activity in iRBD (Braak, Ghebremedhin, Rub, Bratzke, & Del Tredici, 2004).…”

Section: Discussionmentioning

confidence: 79%

“…Excessive fragmentary myoclonus was also observed in several neurodegenerative diseases, such as Parkinson's disease (PD; Sobreira-Neto et al, 2015), multiple system atrophy (Vetrugno et al, 2007), amyotrophic lateral sclerosis (Sonka et al, 2004), spinocerebellar ataxia type 3 (dos Santos et al, 2014), Niemann-Pick disease type C (Vankova et al, 2003) and mitochondrial encephalopathy (Pincherle, Mantoani, Villani, Confalonieri, & Erbetta, 2006).…”

Section: Introductionmentioning

confidence: 99%

Fragmentary myoclonus in idiopathic rapid eye movement sleep behaviour disorder

Nepožitek

Dostálová

Kemlink

et al. 2019

Journal of Sleep Research

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Summary Fragmentary myoclonus is a result of muscle activity consisting of brief potentials in surface electromyography during polysomnography. Excessive fragmentary myoclonus is defined by increased intensity of the potentials. A few studies report excessive fragmentary myoclonus occurrence in neurodegenerative diseases. Because idiopathic rapid eye movement sleep behaviour disorder is considered as an early stage of neurodegeneration with involvement of the brainstem, we charted the prevalence and quantified the intensity of excessive fragmentary myoclonus in idiopathic rapid eye movement sleep behaviour disorder. Twenty‐nine patients (one woman, 28 men, mean age 68 years, SD 6.2) and 29 controls (two women, 27 men, mean age 65.6 years, SD 8.6) underwent polysomnography. Fragmentary myoclonus potentials were identified and counted according to internationally used criteria. Fragmentary myoclonus intensity was quantified by the fragmentary myoclonus index. Excessive fragmentary myoclonus was diagnosed in 75.9% (22 subjects) in idiopathic rapid eye movement sleep behaviour disorder, while in 34.5% (10 subjects) among the controls (p = 0.003). Quantitative analysis showed a wide‐range fragmentary myoclonus index in idiopathic rapid eye movement sleep behaviour disorder (4.0–632.4; median 60.7) and in the controls (0.8–938.1; median 34.3). The overall difference in fragmentary myoclonus index was not significant between the groups; however, patients with idiopathic rapid eye movement sleep behaviour disorder showed trends for higher fragmentary myoclonus index scores in wakefulness (p = 0.027), N1 (p = 0.032), N3 (p = 0.046) and R (p = 0.007). Fragmentary myoclonus index does not correlate with age, idiopathic rapid eye movement sleep behaviour disorder duration or R stage atonia deficiency. The prevalence of excessive fragmentary myoclonus is higher in idiopathic rapid eye movement sleep behaviour disorder compared with the controls, so fragmentary myoclonus should be taken into account in future research of rapid eye movement sleep behaviour disorder and motor control in sleep.

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“…The hypothesis that brainstem is the site of origin of EFM is moreover supported by reports of the occurrence of EFM in neurodegenerative diseases associated with the lesions of the brainstem structures (Vankova et al, 2003;Pincherle et al, 2006;Vetrugno et al, 2007;dos Santos et al, 2014;Sobreira-Neto et al, 2015).…”

Section: Neurophysiologymentioning

confidence: 82%

“…The EFM was observed in Parkinson's disease (Sobreira-Neto et al, 2015), multiple system atrophy (Vetrugno et al, 2007), amyotrophic lateral sclerosis (Sonka et al, 2004), Machado-Joseph disease (dos Santos et al, 2014), NiemannPick disease type C (Vankova et al, 2003) and mitochondrial encephalopathy (Pincherle et al, 2006).…”

Section: Clinical Significancementioning

confidence: 99%

Excessive Fragmentary Myoclonus: What Do We Know?

Nepožitek

Šonka

2017

Prague Med. Rep.

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Abstract:Excessive fragmentary myoclonus (EFM) is a polysomnographic finding registered by the surface electromyography (EMG) and characterized as a result of the muscle activity consisting of sudden, isolated, arrhythmic, asynchronous and asymmetric brief twitches. The EMG potentials are defined by the exact criteria in The International Classification of the Sleep Disorders, 3 rd edition and they appear with high intensity in all sleep stages. Clinical significance of EFM is unclear. It was observed in combination with other diseases and features such as obstructive and central sleep apnea, narcolepsy, periodic limb movements, insomnia, neurodegenerative disorders and peripheral nerve dysfunction. Relation to such wide range of diseases supports the opinion that EFM is nor a specific sleep disorder nor a specific polysomnographic sign. The option that EFM is a normal variant has also not been ruled out so far.

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Excessive fragmentary myoclonus in Machado–Joseph disease

Cited by 14 publications

References 36 publications

Restless legs syndrome and periodic leg movements in patients with movement disorders: Specific considerations

Restless legs syndrome and periodic leg movements in patients with movement disorders: Specific considerations

Fragmentary myoclonus in idiopathic rapid eye movement sleep behaviour disorder

Excessive Fragmentary Myoclonus: What Do We Know?

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