Cognition and psychopathology in myoclonus-dystonia

Tricht, Mirjam J. van; Dreissen, Yasmine E. M.; Cath, Daniëlle C.; Dijk, J. Marc C. van; Contarino, Maria Fiorella; Salm, S.M. van der; Foncke, E.M.J.; Groen, Justus L.; Schmand, Ben; Tijssen, Marina A. J.

doi:10.1136/jnnp-2011-301386

Cited by 57 publications

(74 citation statements)

References 60 publications

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“…Underlying aetiology may be inherited, acquired or idiopathic (Albanese et al, 2013); with at least three causative genes identified and validated (including DYT1, DYT6, DYT25; Dauer et al, 2014) In addition to these often disabling motor symptoms, several studies have reported abnormalities in cognition (Stamelou et al, 2012). However, there has been some inconsistency in the abnormalities reported, with several conflicting findings, and some studies reporting no impairment at all (Ostrem et al, 2011;Taylor et al, 1991;van Tricht et al, 2012). Thus, the evidence for cognitive impairment in dystonia remains controversial.…”

Section: Introductionmentioning

confidence: 99%

“…Other investigations have also revealed scattered impairments, mostly on tests of executive functions. For example, Jahanashahi, Rowe and Fuller (2003) reported impairments in category fluency and dual tasking; Bugalho and colleagues (2008) reported an increased number of perseverations on the Wisconsin Card Sorting Test; and van Tricht et al (2012) reported impairment in category fluency and the Trail Making Test -part B. A few studies have also reported impairment in visual and verbal memory (Balas et al, 2006;Romano et al, 2012).…”

Section: Introductionmentioning

confidence: 99%

“…Furthermore, although it is well recognised that the incidence of mood disorder is elevated in dystonia (Bugalho et al, 2008;Kleiner-Fisman et al, 2007;Ostrem et al, 2011;van Tricht et al, 2012), few studies have examined the relationship between cognitive performance and mood. Van Tricht et al (2012) found that patients with isolated dystonia who also had a history of anxiety performed worse on a measure of working memory, and Jahanashahi et al (2003) found that those with higher depression scores performed worse on a measure of executive functioning.…”

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confidence: 99%

“…Van Tricht et al (2012) found that patients with isolated dystonia who also had a history of anxiety performed worse on a measure of working memory, and Jahanashahi et al (2003) found that those with higher depression scores performed worse on a measure of executive functioning. This raises the possibility that any cognitive impairment may reflect the impact of mood disorder.…”

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Relationship of Cognitive Function to Motor Symptoms and Mood Disorders in Patients With Isolated Dystonia

Foley

Vinke

Limousin

et al. 2017

Cognitive and Behavioral Neurology

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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confidence: 99%

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confidence: 99%

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Relationship of Cognitive Function to Motor Symptoms and Mood Disorders in Patients With Isolated Dystonia

Foley

Vinke

Limousin

et al. 2017

Cognitive and Behavioral Neurology

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“…Mood disorders and psychoses have a higher prevalence in patients with rapid onset dystonia-parkinsonism (DYT12) than in non-mutant carriers 23,24 . Psychiatric non-motor features are also found in sporadic forms of primary dystonia.…”

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Understanding dystonia: diagnostic issues and how to overcome them

Camargos

Cardoso

2016

Arq. Neuro-Psiquiatr.

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The diagnosis and treatment of dystonia are challenging. This is likely due to gaps in the complete understanding of its pathophysiology, lack of animal models for translational studies, absence of a consistent pathological substrate and highly variable phenotypes and genotypes. The aim of this review article is to provide an overview of the clinical, neurophysiological and genetic features of dystonia that can help in the identification of this movement disorder, as well as in the differential diagnosis of the main forms of genetic dystonia. The variation of penetrance, age of onset, and topographic distribution of the disease in carriers of the same genetic mutation indicates that other factors -either genetic or environmental -might be involved in the development of symptoms. The growing knowledge of cell dysfunction in mutants may give insights into more effective therapeutic targets.Keywords: dystonia; apoptosis. RESUMOO diagnóstico e o tratamento da distonia podem ser desafiadores. Isso se dá provavelmente a pouca compreensão da fisiopatologia, a falta de modelos animais para estudos translacionais, ausência de um substrato patológico consistente e genótipo e fenótipo altamente variáveis. O objetivo deste artigo de revisão é fornecer uma visão geral dos aspectos clínicos, neurofisiológicos e genéticos de distonia que podem ajudar na identificação deste distúrbio do movimento, bem como no diagnóstico diferencial das principais formas de distonia hereditária. Há uma ênfase particular na nova definição e classificação da Internacional das Distonias, bem como as recentes descobertas dos mecanismos moleculares subjacentes em algumas formas de distonia primária. A variação de penetrância, idade de início, e distribuição topográfica da doença em portadores da mesma mutação genética indica que outros fatores -genéticos ou ambientais podem estar envolvidos no desenvolvimento dos sintomas. O conhecimento crescente sobre a disfunção celular em mutantes pode gerar insights sobre alvos terapêuticos mais eficazes.Palavras-chave: distonia; apoptose

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Psychiatric disorders, myoclonus dystonia and SGCE : an international study

Peall

Dijk

Saunders‐Pullman

et al. 2015

Ann Clin Transl Neurol

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ObjectiveMyoclonus‐dystonia (M‐D) is a hyperkinetic movement disorder, typically alcohol‐responsive upper body myoclonus and dystonia. The majority of autosomal dominant familial cases are caused by epsilon‐sarcoglycan gene (SGCE) mutations. Previous publications have observed increased rates of psychiatric disorders amongst SGCE mutation‐positive populations. We analyzed the psychiatric data from four international centers, forming the largest cohort to date, to further determine the extent and type of psychiatric disorders in M‐D.MethodsPsychiatric data from SGCE mutation‐positive M‐D cohorts, collected by movement disorder specialists in the Netherlands, United Kingdom, United States, and Germany, were analyzed. These data were collected using standardized, systematic questionnaires allowing classification of symptoms according to Diagnostic and Statistical Manual of Mental Disorders, fourth edition (DSM‐IV) criteria. Based on motor findings and SGCE mutation analysis, participants were classified into one of three groups: manifesting carriers, nonmanifesting carriers and noncarriers.ResultsData from 307 participants were evaluated (140 males, 167 females, mean age at examination: 42.5 years). Two‐thirds of motor affected mutation carriers (n = 132) had ≥1 psychiatric diagnosis, specific, and social phobias being most common followed by alcohol dependence and obsessive‐compulsive disorder (OCD). Compared to familial controls, affected mutation carriers had significantly elevated overall rates of psychiatric disorders (P < 0.001). The most significant differences were observed with alcohol dependence (P < 0.001), OCD (P < 0.001), social and specific phobias (P < 0.001).InterpretationM‐D due to SGCE mutations is associated with specific psychiatric disorders, most commonly OCD, anxiety‐related disorders, and alcohol dependence. These suggest either a potential pleiotropic function for SGCE within the central nervous system or a secondary effect of the motor disorder.

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Cognition and psychopathology in myoclonus-dystonia

Cited by 57 publications

References 60 publications

Relationship of Cognitive Function to Motor Symptoms and Mood Disorders in Patients With Isolated Dystonia

Relationship of Cognitive Function to Motor Symptoms and Mood Disorders in Patients With Isolated Dystonia

Understanding dystonia: diagnostic issues and how to overcome them

Psychiatric disorders, myoclonus dystonia and SGCE : an international study

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