Myoclonus dystonia

Saunders‐Pullman, Rachel; Shriberg, Janet; Heiman, Gary A.; Raymond, Deborah; Wendt, Kristin J.; Kramer, Patricia L.; Schilling, Karla; Kurlan, Roger; Klein, Christine; Ozelius, Laurie J.; Risch, Neil; Bressman, Susan

doi:10.1212/wnl.58.2.242

Cited by 130 publications

(19 citation statements)

References 19 publications

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“…OCD comorbidity with generalized anxiety disorder (GAD) and MDD was also statistically significant in these three families (but neither GAD nor MDD with MDS alone) [126]. In another study of three extended families with MDS, OCD was diagnosed in three members of one of the families, all three of whom were symptomatic MDS carriers.…”

Section: The Other Heterogeneity Conundrummentioning

confidence: 88%

Anxiety and affective disorder comorbidity related to serotonin and other neurotransmitter systems: obsessive–compulsive disorder as an example of overlapping clinical and genetic heterogeneity

Murphy

Moya

Fox

et al. 2013

Phil. Trans. R. Soc. B

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Individuals with obsessive–compulsive disorder (OCD) have also been shown to have comorbid lifetime diagnoses of major depressive disorder (MDD; rates greater than 70%), bipolar disorder (rates greater than 10%) and other anxiety disorders (e.g. panic disorder, post-traumatic stress disorder (PTSD)). In addition, overlap exists in some common genetic variants (e.g. the serotonin transporter gene ( SLC6A4 ), the brain-derived neurotrophic factor (BDNF) gene), and rare variants in genes/chromosomal abnormalities (e.g. the 22q11 microdeletion syndrome) found across the affective/anxiety disorder spectrums. OCD has been proposed as a possible independent entity for DSM-5, but by others thought best retained as an anxiety disorder subtype (its current designation in DSM-IV), and yet by others considered best in the affective disorder spectrum. This review focuses on OCD, a well-studied but still puzzling heterogeneous disorder, regarding alterations in serotonergic, dopaminergic and glutamatergic neurotransmission in addition to other systems involved, and how related genes may be involved in the comorbidity of anxiety and affective disorders. OCD resembles disorders such as depression, in which gene × gene interactions, gene × environment interactions and stress elements coalesce to yield OC symptoms and, in some individuals, full-blown OCD with multiple comorbid disorders.

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Section: The Other Heterogeneity Conundrummentioning

confidence: 88%

Anxiety and affective disorder comorbidity related to serotonin and other neurotransmitter systems: obsessive–compulsive disorder as an example of overlapping clinical and genetic heterogeneity

Murphy

Moya

Fox

et al. 2013

Phil. Trans. R. Soc. B

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“…Prior to gene identification, in a study of three families with myoclonus-dystonia demonstrating linkage to the DYT11 locus, 44% of manifesting carriers met criteria for alcohol dependence, versus 13% of non-manifesting carriers. The rates of alcohol dependence between all carriers and non carriers did not differ, suggesting a palliative effect of alcohol in the motor symptoms rather than a result of the gene expression [133]. These results were further replicated in a larger cohort of patients with identified epsilon sarcoglycan mutations [134].…”

Section: - Alcohol Use In Patients With Movement Disorders: Essentiamentioning

confidence: 96%

Substance Abuse and Movement Disorders: Complex Interactions and Comorbidities

Deik¹,

Saunders‐Pullman²,

Luciano³

2012

CDAR

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The relationship between movement disorders and substance abuse which we previously reviewed are updated. We examine these relationships bidirectionally with focus on drugs of abuse which cause movement disorders, as well as primary movement disorders that are associated with use and abuse of alcohol and dopaminergic medications. First, we review the movement disorders that may develop from the acute use or withdrawal of frequent drugs of abuse, including alcohol, cocaine, heroin, amphetamine and methcathinone. We then comment on the interaction between alcoholism and alcohol-responsive movement disorders, such as essential tremor and myoclonus-dystonia. Lastly, we discuss the potential for abuse of antiparkinsonian dopaminergic agents in patients with Parkinson’s disease (PD).

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“…Frucht reported beneficial effects treating three patients with myoclonus-dystonia syndrome who were alcohol responsive [49]. However alcohol abuse and dependence are not uncommon in DYT11 patients [166], and the drug may not be safe in this population. Alcohol responsiveness has been reported in about 55-60% of patients with SD [167].…”

Section: Reviewmentioning

confidence: 99%

Medical treatment of dystonia

2016

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Therapeutic strategies in dystonia have evolved considerably in the past few decades. Three major treatment modalities include oral medications, botulinum toxin injections and surgical therapies, particularly deep brain stimulation. Although there has been a tremendous interest in the later two modalities, there are relatively few recent reviews of oral treatment. We review the medical treatment of dystonia, focusing on three major neurotransmitter systems: cholinergic, GABAergic and dopaminergic. We also provide a practical guide to medication selection, therapeutic strategy and unmet needs.

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Myoclonus dystonia

Abstract: OCD may be associated with the DYT11 M-D gene; however, a larger sample is necessary to confirm this finding. Alcohol dependence is highly associated with expressing symptoms of M-D. This may be explained by self-medication with alcohol to improve motor symptoms of M-D.

Cited by 130 publications

References 19 publications

Anxiety and affective disorder comorbidity related to serotonin and other neurotransmitter systems: obsessive–compulsive disorder as an example of overlapping clinical and genetic heterogeneity

Anxiety and affective disorder comorbidity related to serotonin and other neurotransmitter systems: obsessive–compulsive disorder as an example of overlapping clinical and genetic heterogeneity

Substance Abuse and Movement Disorders: Complex Interactions and Comorbidities

Medical treatment of dystonia

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