Myoclonus-dystonia (DYT11) with novel SGCE mutation misdiagnosed as a primary psychiatric disorder

Bonello, Michael; Larner, AJ; Alusi, Sundus

doi:10.1016/j.jns.2014.08.043

Cited by 5 publications

(4 citation statements)

References 10 publications

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“…The predominant motor sign in SGCE-MD is myoclonus, presenting with very brief, "lightning-like" or "tic-tac" jerks, typically involving the upper part of the body (neck, trunk, limb), more in the proximal than distal muscles. 27,28 Less frequently, other body parts, such as the face, 7,[29][30][31] larynx, [30][31][32][33] and lower limbs, 16,20,22,23,31,[34][35][36][37][38] can be affected. The myoclonic jerks may be present at rest but are typically aggravated or elicited by action, posture, and psychological stress.…”

Section: Sgce-md: a Clinical Overviewmentioning

confidence: 99%

“…Oral medications such as benzodiazepines that reduce neuronal excitability via GABAergic mechanisms have been reported to show mild or no improvement in SGCE-MD. 20,29,46,93,[98][99][100] Other therapies such as levetiracetam, 20,93 valproate, 20,32,46,93,98,101 gabapentin, 46 pimozide, 32 trihexiphenidyl, 26,57 and botulinum toxin injections 26,32,102 have also been tried with variable results. Anecdotally, dopaminergic drugs, either levodopa 33 or dopamine-blocking agents like tetrabenazine, 103 have been reported to improve motor signs in patients with SGCE deletions.…”

Section: Treatmentmentioning

confidence: 99%

“…Oral medications such as benzodiazepines that reduce neuronal excitability via GABAergic mechanisms have been reported to show mild or no improvement in SGCE ‐MD . Other therapies such as levetiracetam, valproate, gabapentin, pimozide, trihexiphenidyl, and botulinum toxin injections have also been tried with variable results.…”

Section: Sgce‐md: a Clinical Overviewmentioning

confidence: 99%

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Twenty years on: Myoclonus‐dystonia and ε‐sarcoglycan — neurodevelopment, channel, and signaling dysfunction

et al. 2019

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A BS TRACT: Myoclonus-dystonia is a clinical syndrome characterized by a typical childhood onset of myoclonic jerks and dystonia involving the neck, trunk, and upper limbs. Psychiatric symptomatology, namely, alcohol dependence and phobic and obsessive-compulsive disorder, is also part of the clinical picture. Zonisamide has demonstrated effectiveness at reducing both myoclonus and dystonia, and deep brain stimulation seems to be an effective and long-lasting therapeutic option for medication-refractory cases. In a subset of patients, myoclonus-dystonia is associated with pathogenic variants in the epsilon-sarcoglycan gene, located on chromosome 7q21, and up to now, more than 100 different pathogenic variants of the epsilon-sarcoglycan gene have been described. In a few families with a clinical phenotype resembling myoclonus-dystonia associated with distinct clinical features, variants have been identified in genes involved in novel pathways such as calcium channel regulation and neurodevelopment. Because of phenotypic similarities with epsilon-sarcoglycan gene-related myoclonus-dystonia, these conditions can be collectively classified as "myoclonusdystonia syndromes." In the present article, we present myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations, with a focus on genetics and underlying disease mechanisms. Second, we review those conditions falling within the spectrum of myoclonus-dystonia syndromes, highlighting their genetic background and involved pathways. Finally, we critically discuss the normal and pathological function of the epsilon-sarcoglycan gene and its product, suggesting a role in the stabilization of the dopaminergic membrane via regulation of calcium homeostasis and in the neurodevelopmental process involving the cerebello-thalamo-pallido-cortical network.

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Section: Sgce-md: a Clinical Overviewmentioning

confidence: 99%

Section: Treatmentmentioning

confidence: 99%

Section: Sgce‐md: a Clinical Overviewmentioning

confidence: 99%

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Twenty years on: Myoclonus‐dystonia and ε‐sarcoglycan — neurodevelopment, channel, and signaling dysfunction

et al. 2019

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“…Misdiagnosis rates of organic as FD in older studies ranged between 25% and 52% . Although diagnostic accuracy for functional neurological disorders has since improved, dystonic presentations remain a source of clinical error …”

Section: Diagnosis Of Functional Dystoniamentioning

confidence: 99%

Functional dystonia and the borderland between neurology and psychiatry: New concepts

2016

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Mind-brain dualism has dominated historical commentary on dystonia, a dichotomous approach that has left our conceptual grasp of it stubbornly incomplete. This is particularly true of functional dystonia, most diagnostically challenging of all functional movement disorders, in which the question of inherent psychogenicity remains a focus of debate. Phenomenological signs considered in isolation lack the specificity to distinguish organic and nonorganic forms, and dystonia's variability has frustrated attempts to develop objective laboratory-supported standards. Diagnostic criteria for functional dystonia that place emphasis on psychiatric symptoms perform poorly in studies of reliability, partly explained by the high frequency of psychopathology in organic dystonia. Novel approaches from the cognitive neurosciences may offer a way forward. Theory on Bayesian statistical prediction in cognitive processing is supported by sufficient experimental evidence for this model to be taken seriously as a way of reconciling contradictory notions about voluntary and unconscious motor control in functional movement disorders. In a Bayesian formulation of functional dystonia, misallocation of attention and abnormal predictive beliefs generate movements that are executed without a sense of agency. Building on this framework, there is a consensus that a biopsychosocial approach is required and that a unified philosophy of brain and mind is the best way to locate dystonia in the neurology-psychiatry borderland. At a practical level, movement disorder neurologists are best placed to differentiate organic from functional dystonia. The main role of psychiatrists is in the diagnosis and management of the primarily psychiatric disorders that often accompany dystonia. © 2016 International Parkinson and Movement Disorder Society.

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Larner¹

2018

Dementia in Clinical Practice: A Neurological Perspective

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Myoclonus-dystonia (DYT11) with novel SGCE mutation misdiagnosed as a primary psychiatric disorder

Cited by 5 publications

References 10 publications

Twenty years on: Myoclonus‐dystonia and ε‐sarcoglycan — neurodevelopment, channel, and signaling dysfunction

Twenty years on: Myoclonus‐dystonia and ε‐sarcoglycan — neurodevelopment, channel, and signaling dysfunction

Functional dystonia and the borderland between neurology and psychiatry: New concepts

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