{"title":"What have we learned about the biology of dystonia from deep brain stimulation?","authors":"Vidailhet Marie","doi":"10.1016/bs.irn.2023.05.008","DOIUrl":"https://doi.org/10.1016/bs.irn.2023.05.008","url":null,"abstract":"<p><p>Deep brain stimulation has dramatically changed the management of patients with dystonia, therapeutic approach of dystonia with marked improvement of dystonia and functional disability. However, despite decades of experience and identification of good prognosis factors, prediction of beneficial effect at the individual level is still a challenge. There is inter-individual variability in therapeutic outcome. Genetic factors are identified but subgroups of patients still have relapse or worsening of dystonia in short or long term. Possible \"biological factors\" underlying such a difference among patients are discussed, including structural or functional differences including altered plasticity.</p>","PeriodicalId":14468,"journal":{"name":"International review of neurobiology","volume":"169 ","pages":"481-491"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9862913","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ruth H Asch, Ansel T Hillmer, Stephen R Baldassarri, Irina Esterlis
{"title":"The metabotropic glutamate receptor 5 as a biomarker for psychiatric disorders.","authors":"Ruth H Asch, Ansel T Hillmer, Stephen R Baldassarri, Irina Esterlis","doi":"10.1016/bs.irn.2022.10.007","DOIUrl":"https://doi.org/10.1016/bs.irn.2022.10.007","url":null,"abstract":"<p><p>The role of glutamate system in the etiology and pathophysiology of psychiatric disorders has gained considerable attention in the past two decades, including dysregulation of the metabotropic glutamatergic receptor subtype 5 (mGlu5). Thus, mGlu5 may represent a promising therapeutic target for psychiatric conditions, particularly stress-related disorders. Here, we describe mGlu5 findings in mood disorders, anxiety, and trauma disorders, as well as substance use (specifically nicotine, cannabis, and alcohol use). We highlight insights gained from positron emission tomography (PET) studies, where possible, and discuss findings from treatment trials, when available, to explore the role of mGlu5 in these psychiatric disorders. Through the research evidence reviewed in this chapter, we make the argument that, not only is dysregulation of mGlu5 evident in numerous psychiatric disorders, potentially functioning as a disease \"biomarker,\" the normalization of glutamate neurotransmission via changes in mGlu5 expression and/or modulation of mGlu5 signaling may be a needed component in treating some psychiatric disorders or symptoms. Finally, we hope to demonstrate the utility of PET as an important tool for investigating mGlu5 in disease mechanisms and treatment response.</p>","PeriodicalId":14468,"journal":{"name":"International review of neurobiology","volume":"168 ","pages":"265-310"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9441951","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"What can epidemiological studies teach on the pathophysiology of adult-onset isolated dystonia?","authors":"Davide Martino","doi":"10.1016/bs.irn.2023.05.015","DOIUrl":"https://doi.org/10.1016/bs.irn.2023.05.015","url":null,"abstract":"<p><p>Several demographic and environmental factors may play an important role in determining the risk of developing adult-onset isolated dystonia (AOID) and/or modifying its course. However, epidemiologic studies have provided to date only partial insight on the disease mechanisms that are actively influenced by these factors. The age-related increase in female predominance in both patients diagnosed with AOID and subjects carrying its putative mediational phenotype suggests sexual dimorphism that has been demonstrated for mechanisms related to blepharospasm and cervical dystonia. The opposite relationship that spread and spontaneous remission of AOID have with age suggests age-related decline of compensatory mechanisms that protect from the progression of AOID. Epidemiological studies focusing on environmental risk factors yielded associations only with specific forms of AOID, even for those factors that are not likely to predispose exclusively to specific focal forms (for example, only writing dystonia was found associated with head trauma, and only blepharospasm with coffee intake). Other factors show biological plausibility of their mechanistic role for specific forms, e.g., dry eye syndrome or sunlight exposure for blepharospasm, scoliosis for cervical dystonia, repetitive writing for writing dystonia. Overall, the relationship between environment and AOID remains complex and incompletely defined. Both hypothesis-driven preclinical studies and well-designed cross-sectional or prospective clinical studies are still necessary to decipher this intricate relationship.</p>","PeriodicalId":14468,"journal":{"name":"International review of neurobiology","volume":"169 ","pages":"21-60"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9854052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The role of metabotropic glutamate receptors in neurobehavioral effects associated with methamphetamine use.","authors":"Peter U Hámor, Lori A Knackstedt, Marek Schwendt","doi":"10.1016/bs.irn.2022.10.005","DOIUrl":"https://doi.org/10.1016/bs.irn.2022.10.005","url":null,"abstract":"<p><p>Metabotropic glutamate (mGlu) receptors are expressed throughout the central nervous system and act as important regulators of drug-induced neuroplasticity and behavior. Preclinical research suggests that mGlu receptors play a critical role in a spectrum of neural and behavioral consequences arising from methamphetamine (meth) exposure. However, an overview of mGlu-dependent mechanisms linked to neurochemical, synaptic, and behavioral changes produced by meth has been lacking. This chapter provides a comprehensive review of the role of mGlu receptor subtypes (mGlu1-8) in meth-induced neural effects, such as neurotoxicity, as well as meth-associated behaviors, such as psychomotor activation, reward, reinforcement, and meth-seeking. Additionally, evidence linking altered mGlu receptor function to post-meth learning and cognitive deficits is critically evaluated. The chapter also considers the role of receptor-receptor interactions involving mGlu receptors and other neurotransmitter receptors in meth-induced neural and behavioral changes. Taken together, the literature indicates that mGlu5 regulates the neurotoxic effects of meth by attenuating hyperthermia and possibly through altering meth-induced phosphorylation of the dopamine transporter. A cohesive body of work also shows that mGlu5 antagonism (and mGlu2/3 agonism) reduce meth-seeking, though some mGlu5-blocking drugs also attenuate food-seeking. Further, evidence suggests that mGlu5 plays an important role in extinction of meth-seeking behavior. In the context of a history of meth intake, mGlu5 also co-regulates aspects of episodic memory, with mGlu5 stimulation restoring impaired memory. Based on these findings, we propose several avenues for the development of novel pharmacotherapies for Methamphetamine Use Disorder based on the selective modulation mGlu receptor subtype activity.</p>","PeriodicalId":14468,"journal":{"name":"International review of neurobiology","volume":"168 ","pages":"177-219"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9441950","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Preface.","authors":"Lori A Knackstedt, Marek Schwendt","doi":"10.1016/S0074-7742(23)00009-0","DOIUrl":"https://doi.org/10.1016/S0074-7742(23)00009-0","url":null,"abstract":"","PeriodicalId":14468,"journal":{"name":"International review of neurobiology","volume":"168 ","pages":"xiii-xvi"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10852672","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Clinical features of dystonia and the science of classification.","authors":"Alberto Albanese","doi":"10.1016/bs.irn.2023.05.006","DOIUrl":"https://doi.org/10.1016/bs.irn.2023.05.006","url":null,"abstract":"<p><p>This chapter describes advances in understanding the clinical features of dystonia since initial clinical recognition and its organization into a coherent and systematic clinical set. The clinical features of dystonia were at first considered an odd neurological movement disorder. Etymology of the word misleadingly underlined muscle tone. The main clinical features of dystonia were recognized gradually. They encompass dystonic movements, dystonic postures, alleviating maneuvers, overflow and mirroring. These features are observed in patients who present a variety of syndromes where dystonia occurs in isolation or combined with other movement disorders, or with other neurologic or systemic features. A large number of syndromic combinations is observed in the clinic and some of the syndomes are highlighted here. Practitioners are required to exert dedicated skills to recognize dystonia and correctly diagnose and classify their patients.</p>","PeriodicalId":14468,"journal":{"name":"International review of neurobiology","volume":"169 ","pages":"1-20"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9854054","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Dystonia and tremor: Do they have a shared biology?","authors":"Abhishek Lenka, Sanjay Pandey","doi":"10.1016/bs.irn.2023.04.002","DOIUrl":"https://doi.org/10.1016/bs.irn.2023.04.002","url":null,"abstract":"<p><p>Dystonia and tremor are the two most commonly encountered hyperkinetic movement disorders encountered in clinical practice. While there has been substantial progress in the research on these two disorders, there also exists a lot of gray areas. Entities such as dystonic tremor and tremor associated with dystonia occupy a major portion of the \"gray zone\". In addition, there is a marked clinical heterogeneity and overlap of several clinical and epidemiological features among dystonia and tremor. These facts raise the possibility that dystonia and tremor could be having shared biology. In this chapter, we revisit critical aspects of this possibility that may have important clinical and research implications in the future. We comprehensively review the points in favor and against the theory that dystonia and tremor have shared biology from clinical, epidemiological, genetic and neuroimaging studies.</p>","PeriodicalId":14468,"journal":{"name":"International review of neurobiology","volume":"169 ","pages":"413-439"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9862911","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Cassandra G Modrak, Courtney S Wilkinson, Harrison L Blount, Marek Schwendt, Lori A Knackstedt
{"title":"The role of mGlu receptors in susceptibility to stress-induced anhedonia, fear, and anxiety-like behavior.","authors":"Cassandra G Modrak, Courtney S Wilkinson, Harrison L Blount, Marek Schwendt, Lori A Knackstedt","doi":"10.1016/bs.irn.2022.10.006","DOIUrl":"https://doi.org/10.1016/bs.irn.2022.10.006","url":null,"abstract":"<p><p>Stress and trauma exposure contribute to the development of psychiatric disorders such as post-traumatic stress disorder (PTSD) and major depressive disorder (MDD) in a subset of people. A large body of preclinical work has found that the metabotropic glutamate (mGlu) family of G protein-coupled receptors regulate several behaviors that are part of the symptom clusters for both PTSD and MDD, including anhedonia, anxiety, and fear. Here, we review this literature, beginning with a summary of the wide variety of preclinical models used to assess these behaviors. We then summarize the involvement of Group I and II mGlu receptors in these behaviors. Bringing together this extensive literature reveals that mGlu5 signaling plays distinct roles in anhedonia, fear, and anxiety-like behavior. mGlu5 promotes susceptibility to stress-induced anhedonia and resilience to stress-induced anxiety-like behavior, while serving a fundamental role in the learning underlying fear conditioning. The medial prefrontal cortex, basolateral amygdala, nucleus accumbens, and ventral hippocampus are key regions where mGlu5, mGlu2, and mGlu3 regulate these behaviors. There is strong support that stress-induced anhedonia arises from decreased glutamate release and post-synaptic mGlu5 signaling. Conversely, decreasing mGlu5 signaling increases resilience to stress-induced anxiety-like behavior. Consistent with opposing roles for mGlu5 and mGlu2/3 in anhedonia, evidence suggests that increased glutamate transmission may be therapeutic for the extinction of fear learning. Thus, a large body of literature supports the targeting of pre- and post-synaptic glutamate signaling to ameliorate post-stress anhedonia, fear, and anxiety-like behavior.</p>","PeriodicalId":14468,"journal":{"name":"International review of neurobiology","volume":"168 ","pages":"221-264"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9506939","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Petra Fischer, Dan Piña-Fuentes, Panagiotis Kassavetis, Anna Sadnicka
{"title":"Physiology of dystonia: Human studies.","authors":"Petra Fischer, Dan Piña-Fuentes, Panagiotis Kassavetis, Anna Sadnicka","doi":"10.1016/bs.irn.2023.05.007","DOIUrl":"10.1016/bs.irn.2023.05.007","url":null,"abstract":"<p><p>In this chapter, we discuss neurophysiological techniques that have been used in the study of dystonia. We examine traditional disease models such as inhibition and excessive plasticity and review the evidence that these play a causal role in pathophysiology. We then review the evidence for sensory and peripheral influences within pathophysiology and look at an emergent literature that tries to probe how oscillatory brain activity may be linked to dystonia pathophysiology.</p>","PeriodicalId":14468,"journal":{"name":"International review of neurobiology","volume":"169 ","pages":"137-162"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9862910","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Dystonia and Parkinson's disease: Do they have a shared biology?","authors":"Elie Matar, Kailash Bhatia","doi":"10.1016/bs.irn.2023.05.001","DOIUrl":"https://doi.org/10.1016/bs.irn.2023.05.001","url":null,"abstract":"<p><p>Parkinsonism and dystonia co-occur across many movement disorders and are most encountered in the setting of Parkinson's disease. Here we aim to explore the shared neurobiological underpinnings of dystonia and parkinsonism through the clinical lens of the conditions in which these movement disorders can be seen together. Foregrounding the discussion, we briefly review the circuits of the motor system and the neuroanatomical and neurophysiological aspects of motor control and highlight their relevance to the proposed pathophysiology of parkinsonism and dystonia. Insight into shared biology is then sought from dystonia occurring in PD and other forms of parkinsonism including those disorders in which both can be co-expressed simultaneously. We organize these within a biological schema along with important questions to be addressed in this space.</p>","PeriodicalId":14468,"journal":{"name":"International review of neurobiology","volume":"169 ","pages":"347-411"},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10240048","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}