{"title":"Is inferior olive central to the pathophysiology of essential tremor? No.","authors":"Mario Manto","doi":"10.1016/bs.irn.2022.02.010","DOIUrl":"https://doi.org/10.1016/bs.irn.2022.02.010","url":null,"abstract":"<p><p>Essential tremor (ET) represents one of the commonest movement disorder worldwide and is the most common tremor disorder. ET manifests with various combinations of motor and nonmotor symptoms. The clinical hallmark is a kinetic tremor of upper limbs. Historically, the pathogenesis of ET has been based on the hypothesis of an overactivity of the inferior olive (inferior olive hypothesis: IOH) where the inferior olive would act as the central pace-maker of ET, resulting in impaired electrophysiological discharges of the olivo-cerebellar tract. The absence of structural alterations in post-mortem studies of the inferior olive is a striking argument against the IOH. Furthermore, neuroimaging studies point towards the implication of the cerebello-thalamo-cerebral pathway rather than the IO, and the harmaline model which has been considered as an animal model of ET presents important weaknesses. By contrast, a series of experiments by Louis et al. have provided convincing evidence of impaired wiring of the Purkinje cell microcircuitry and progressive neurodegeneration of the cerebellar cortex. The Purkinje neuron appears as the primary culprit (Purkinjopathy). The cerebellar cortex hypothesis (CCH) has solid neuropathological signatures, unlike the purely physiological IOH. Rather than a dysregulatory electrophysiological disorder suggested by IOH, ET is a clinical-pathological entity similar to late onset neurodegenerative disorders such as Parkinson's disease or Alzheimer's disease. The CCH emphasizes the need to develop novel therapeutic strategies in order to maintain or promote the cerebellar reserve. The modern reconceptualization of ET in a genuine cerebellar disorder is cleaning the IOH to the light of histopathological studies. ET falls in the large basket of the neurodegenerative diseases and we have entered into a novel formulation of the disease pathogenesis with direct impacts on future therapies.</p>","PeriodicalId":14468,"journal":{"name":"International review of neurobiology","volume":" ","pages":"167-187"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40396849","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":"More than a participant in trials of cell and gene therapy: Hearing the voices of people living with neurodegenerative diseases.","authors":"Emma L Lane, Lyndsey Isaacs, Soania Mathur","doi":"10.1016/bs.irn.2022.09.007","DOIUrl":"https://doi.org/10.1016/bs.irn.2022.09.007","url":null,"abstract":"<p><p>With the advent of novel advanced therapy medicinal products (ATMPs) for neurodegenerative diseases, their pathway to clinical trials and the therapeutic landscape has highlighted some new challenges, many of which are outlined in other chapters of this volume. The practical considerations of all these aspects from basic research and animal models through to clinical trials and eventual clinical implementation are significant. By and large, the major voices surrounding these challenges are the scientists and clinical teams who both develop the interventions and design and deliver the clinical trials to test these novel ATMPs. Their expertise is of course essential, but there is a key voice that can add considerable benefit to the pipeline, that of the lived experience of the disease being treated and the new intervention being considered. While still in their relative infancy in neurodegenerative disease, some ATMPs are already in clinical application in other disease areas, mainly cancer and inherited disorders. This more advanced status has raised some interesting questions about the role of the patient voice across all aspects of the therapeutic research and clinical delivery pipeline. This chapter highlights what has been learnt from the patient voice in their understanding and perspectives of ATMPs and in their experiences of clinical trials in neurodegenerative diseases to date. We discuss when, and how, including people living with neurodegenerative disease is of value in the development and implementation of ATMPs and the questions this collaborative effort can allow us to answer.</p>","PeriodicalId":14468,"journal":{"name":"International review of neurobiology","volume":" ","pages":"281-312"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40704455","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}
Monville Christelle, Morizur Lise, Karim Ben M'Barek
{"title":"Challenges of cell therapies for retinal diseases.","authors":"Monville Christelle, Morizur Lise, Karim Ben M'Barek","doi":"10.1016/bs.irn.2022.09.004","DOIUrl":"https://doi.org/10.1016/bs.irn.2022.09.004","url":null,"abstract":"<p><p>Because retinal cells could not regenerate in mammals, retinal degeneration is an irreversible phenomenon caused by various disease conditions including age-related macular degeneration (AMD) and retinitis pigmentosa (RP). During the course of these diseases, photoreceptors (PRs) are susceptible to degenerate due to their malfunctions or to a primary dysfunction of the retinal pigment epithelium (RPE). These diseases affect millions of individuals worldwide. Many therapies currently under development are designed to treat retinal pathologies and among those, cell-based replacement strategies hold significant promise for treatment of retinal degenerative diseases, especially when atrophy of retinal tissue occurs. This review will focus on the use of hPSCs to slow-down or treat retinal disorders and discuss current challenges to achieve successful engraftment of cell products.</p>","PeriodicalId":14468,"journal":{"name":"International review of neurobiology","volume":" ","pages":"49-77"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40704456","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}
Chloe J Love, Bethany A Masson, Carolina Gubert, Anthony J Hannan
{"title":"The microbiota-gut-brain axis in Huntington's disease.","authors":"Chloe J Love, Bethany A Masson, Carolina Gubert, Anthony J Hannan","doi":"10.1016/bs.irn.2022.06.005","DOIUrl":"https://doi.org/10.1016/bs.irn.2022.06.005","url":null,"abstract":"<p><p>Huntington's disease (HD) is a fatal neurodegenerative disorder caused by an autosomal dominant trinucleotide (CAG) tandem repeat, resulting in complex motor, psychiatric and cognitive symptoms as well as gastrointestinal disturbances and other peripheral symptoms. There are currently no disease-modifying treatments, and the peripheral pathology of the disorder is not well understood. Emerging evidence suggests that the bi-directional communication pathways between the gut and the brain, including the microbiota-gut-brain axis, can affect motor, psychiatric and cognitive symptoms as well as weight loss and sexual dimorphism seen in HD. Furthermore, both HD and the microbiota-gut-brain axis can be influenced by environmental factors, opening potential new avenues to explore therapeutic options for this devastating disorder.</p>","PeriodicalId":14468,"journal":{"name":"International review of neurobiology","volume":" ","pages":"141-184"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40707336","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}
Katarina Rukavina, Victor McConvey, Kallol Ray Chaudhuri, Janis Miyasaki
{"title":"Parkinson's disease and Covid-19: Is there an impact of ethnicity and the need for palliative care.","authors":"Katarina Rukavina, Victor McConvey, Kallol Ray Chaudhuri, Janis Miyasaki","doi":"10.1016/bs.irn.2022.03.004","DOIUrl":"https://doi.org/10.1016/bs.irn.2022.03.004","url":null,"abstract":"<p><p>Under the traditional models of care for People with Parkinson's Disease (PD, PwP), many of their needs remain unmet and a substantial burden of motor and non-motor symptoms they experience may not be tackled sufficiently. An introduction of palliative care (PC) interventions early in the course of PD offers profound benefits: it may improve quality of life of patients, their families and caregivers through the prevention and relief of medical symptoms, while, at the same time, emphasizing their emotional needs and spiritual wellbeing, establishing goals of care, and engaging in the advance care planning (ACP). The ongoing Coronavirus Disease 2019 (Covid-19) pandemic poses an unprecedented set of challenges for PwP and has in many ways (both directly and indirectly) magnified their suffering, thus rapidly raising the demand for PC interventions. Covid-19, as well as the repercussions of prolonged mobility restrictions and limited health-care access might exacerbate the severity of PD motor symptoms and interact negatively with a range of non-motor symptoms, with a detrimental effect on quality of life. Greater motor disability, higher amount of levodopa-induced motor fluctuations with an increased daily off-time, fatigue, anxiety, depression, sleep disturbances, pain and worsening of cognitive complaints might dominate the clinical presentation in PwP during the Covid-19 pandemic, alongside raising psychological and spiritual concerns and anticipatory grief. Here, we aim to provide a foundation for pragmatic and clinically orientated PC approach to improve quality of life and relieve suffering of PwP in the context of the current, ongoing Covid-19 pandemic.</p>","PeriodicalId":14468,"journal":{"name":"International review of neurobiology","volume":" ","pages":"229-249"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9042419/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33493601","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Cheryl Carcel, Valeria Caso, Diana Aguiar de Sousa, Else Charlotte Sandset
{"title":"Sex differences in neurovascular disorders.","authors":"Cheryl Carcel, Valeria Caso, Diana Aguiar de Sousa, Else Charlotte Sandset","doi":"10.1016/bs.irn.2022.07.001","DOIUrl":"https://doi.org/10.1016/bs.irn.2022.07.001","url":null,"abstract":"<p><p>Neurovascular disorders is a heterogenous group of diseases, including one of the most time critical disorders in emergency medicine; stroke. Sex differences are extensively described in neurovascular disorders, ranging from differences in symptom presentation, risk factors, treatment and outcomes. For example, women with stroke, more often present with generalized weakness, reduced consciousness and headache than men. Furthermore, there are differences in risk factors, outcomes and in the effect of secondary prevention. Women have a higher risk of cerebral venous thrombosis and developing cerebral aneurysms. In general, women have been underrepresented in trials on neurovascular disorders. This chapter provides an extensive overview of sex differences in stroke in general and in the differences specially seen in ischemic stroke, intracerebral hemorrhage, subarachnoid hemorrhage and in cerebral venous thrombosis.</p>","PeriodicalId":14468,"journal":{"name":"International review of neurobiology","volume":"164 ","pages":"69-99"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33445995","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}
Anna Roszmann, Aleksandra M Podlewska, Yue Hui Lau, Iro Boura, Annette Hand
{"title":"Covid-19 and Parkinson's disease: Nursing care, vaccination and impact on advanced therapies.","authors":"Anna Roszmann, Aleksandra M Podlewska, Yue Hui Lau, Iro Boura, Annette Hand","doi":"10.1016/bs.irn.2022.04.005","DOIUrl":"https://doi.org/10.1016/bs.irn.2022.04.005","url":null,"abstract":"<p><p>The Coronavirus Disease 2019 (Covid-19) pandemic has created many challenges for the Parkinson's Disease (PD) care service delivery, which has been established over the past decades. The need for rapid adjustments to the new conditions has highlighted the role of technology, which can act as an enabler both in patient-facing aspects of care, such as clinical consultations, as well as in professional development and training. The Parkinson's Disease Nurse Specialists (PNSs) play a vital role in the effective management of people with PD (PwP). Maintaining optimum functionality and availability of device aided therapies is essential in order to ensure patients' quality of life. PwP are particularly recommended to use vaccination as a basic protection from the virus. The long-term consequences of this pandemic on PwP are highly uncertain, and education, support and reassurance of patients and their families may help ease their burden.</p>","PeriodicalId":14468,"journal":{"name":"International review of neurobiology","volume":"165 ","pages":"173-196"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9270873/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10360064","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
L. Batzu, N. Titova, K. Bhattacharyya, K. Chaudhuri
{"title":"The pathophysiology of sexual dysfunction in Parkinson's disease: An overview.","authors":"L. Batzu, N. Titova, K. Bhattacharyya, K. Chaudhuri","doi":"10.1016/bs.irn.2022.01.001","DOIUrl":"https://doi.org/10.1016/bs.irn.2022.01.001","url":null,"abstract":"","PeriodicalId":14468,"journal":{"name":"International review of neurobiology","volume":"162 1","pages":"21-34"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"54086670","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":"Management strategies of sexual dysfunctions in Parkinson's disease.","authors":"D. Urso, V. Leta, K. Rukavina","doi":"10.1016/bs.irn.2021.12.004","DOIUrl":"https://doi.org/10.1016/bs.irn.2021.12.004","url":null,"abstract":"","PeriodicalId":14468,"journal":{"name":"International review of neurobiology","volume":"162 1","pages":"97-116"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"54086320","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}
Lara Diem, Helly Hammer, Robert Hoepner, Max Pistor, Jana Remlinger, Anke Salmen
{"title":"Sex and gender differences in autoimmune demyelinating CNS disorders: Multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMOSD) and myelin-oligodendrocyte-glycoprotein antibody associated disorder (MOGAD).","authors":"Lara Diem, Helly Hammer, Robert Hoepner, Max Pistor, Jana Remlinger, Anke Salmen","doi":"10.1016/bs.irn.2022.06.011","DOIUrl":"https://doi.org/10.1016/bs.irn.2022.06.011","url":null,"abstract":"<p><p>Multiple sclerosis (MS), Neuromyelitis optica spectrum disorder (NMOSD) and Myelin-Oligodendrocyte-Glycoprotein antibody associated disorder (MOGAD) are demyelinating disorders of the central nervous system (CNS) of autoimmune origin. Here, we summarize general considerations on sex-specific differences in the immunopathogenesis and hormonal influences as well as key clinical and epidemiological elements. Gender-specific issues are widely neglected starting with the lacking separation of sex as a biological variable and gender comprising the sociocultural components. As for other autoimmune diseases, female preponderance is common in MS and NMOSD. However, sex distribution in MOGAD seems equal. As in MS, immunotherapy in NMOSD and MOGAD is crucial to prevent further disease activity. Therefore, we assessed data on sex differences of the currently licensed disease-modifying treatments for efficacy and safety. This topic seems widely neglected with only fragmented information resulting from post-hoc analyses of clinical trials or real-world post-marketing studies afflicted with lacking power and/or inherent sources of bias. In summary, biological hypotheses of sex differences including genetic factors, the constitution of the immune system and hormonal influences are based upon human and preclinical data, especially for the paradigmatic disease of MS whereas specific data for NMOSD and MOGAD are widely lacking. Epidemiological and clinical differences between men and women are well described for MS and to some extent for NMOSD, yet, with remaining contradictory findings. MOGAD needs further detailed investigation. Sex-specific analyses of safety and efficacy of long-term immunotherapies need to be addressed in future studies designed and powered to answer the pressing questions and to optimize and individualize treatment.</p>","PeriodicalId":14468,"journal":{"name":"International review of neurobiology","volume":"164 ","pages":"129-178"},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33446052","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}