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Movement Disorders in Neuromyelitis Optica Spectrum Disorder: A Systematic Review.

BACKGROUND: Several movement disorders (MD) have been reported to occur in neuromyelitis optica spectrum disorder (NMOSD). No extensive review has addressed the whole spectrum of MD in NMOSD. OBJECTIVE: This article aims to review MD in NMOSD, describing its prevalence and features. METHODS: A systematic review and prevalence meta-analysis were conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) reporting guidelines. We included articles on NMOSD patients with MD as defined by the 2015 international consensus criteria. Meta-analysis was cons…

Movement disorder and neuronal migration disorder due to ARFGEF2 mutation.

We report a child with a severe choreadystonic movement disorder, bilateral periventricular nodular heterotopia (BPNH), and secondary microcephaly based on compound heterozygosity for two new ARFGEF2 mutations (c.2031_2038dup and c.3798_3802del), changing the limited knowledge about the phenotype. The brain MRI shows bilateral hyperintensity of the putamen, BPNH, and generalized atrophy. Loss of ARFGEF2 function affects vesicle trafficking, proliferation/apoptosis, and neurotransmitter receptor function. This can explain BPNH and microcephaly. We hypothesize that the movement disorder and the

Movement Disorders in Aicardi-Goutières Syndrome and Response to Immunomodulation.

This study characterizes movement disorders and treatment responses in seven children with Aicardi-Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7. GMFCS levels ranged from I to V. Following immunomodulation, interferon signatures normalized in 6/7 of patients, and 6/7 showed clinical stabilization or improvement, with no further regression events. These findings indicate that targeted therapy was associated wi…

Ethnic and Epidemiological Peculiarities of Movement Disorders across the World.

BACKGROUND: Globalization and increased international mobility have reshaped the topography of movement disorders worldwide, with disorders once considered confined to specific ethnicities or geographic areas now being observed in unexpected contexts. This requires neurologists to be aware of specific phenotypes outside their originally described settings, select appropriate genetic testing, and interpret findings within diverse patient backgrounds. OBJECTIVES: This review examines the ethnic and geographical distribution of specific movement disorders, aiming to support clinicians in develop…

[MRI-guided high-intensity focused ultrasound treatment for movement disorders].

Magnetic resonance-guided high-intensity focused ultrasound (MRgHIFU) therapy represents a novel, non-invasive, and non-surgical interventional approach for movement disorders, particularly essential tremor and Parkinson's disease. This technique creates an ablative thermal lesion at a target point with millimetric precision, disrupting specific dysfunctional neural circuits. In essential tremor, ventral intermediate nucleus thalamotomy using MRgHIFU leads to significant and lasting improvements in postural and kinetic tremor, ultimately enhancing patients' quality of life. Adverse effects of …

Basal ganglia contributions to social cognition: evidence from movement disorders.

Introduction and method: Over the last few decades many studies have demonstrated that various populations with movement disorder exhibit a variety of difficulties with social cognition. This brief review paper summarises the major findings of social cognitive research conducted in various hypo- and hyper-kinetic movement disorders (Parkinson's disease, Huntington's disease and Tourette syndrome), with a focus on findings that may shed new light on the functions of the basal ganglia.Results: Task impairments include more predictable difficulties with embodied processes involving the motor syst…

Spinocerebellar ataxias masquerading as movement disorders: clinical and genetic characterization.

BACKGROUND: Spinocerebellar ataxias (SCAs) exhibit substantial clinical and genetic heterogeneity. SCAs primarily present with progressive ataxia as the cardinal clinical feature. However, they may co-occur with non-ataxic motor symptoms, including various movement disorders. Notably, certain SCA subtypes may present with movement disorders as their primary manifestation. This phenotypic complexity poses significant diagnostic challenges, particularly in distinguishing SCAs from other neurodegenerative conditions with overlapping presentations. METHODS: This study enrolled 35 probands initial…

Case series: Suture lateralization for neonatal vocal fold movement disorders.

INTRODUCTION: Neonatal stridor can be caused by bilateral vocal fold paralysis (BVFP). Paradoxical vocal fold movement (PVFM), though rare, can precede BVFP. Both conditions may lead to airway obstruction requiring intervention. Suture lateralization is a minimally invasive, reversible alternative to tracheostomy. We present a case series of six infants with stridor who underwent suture lateralization. METHODS: A retrospective review was conducted at a tertiary children's hospital from 2022 to 2024. Infants with BVFP or PVFM who underwent combined endoscopic and open suture lateralization wer

Исследование Novel Perrapeutic Avenues: Репурирование лекарств от неевродегенеративных расстройств.

Нейродегенеративные расстройства движения, охватывающие такие заболевания, как болезнь Паркинсона, болезнь Хантингтона и амиотропический боковой склероз, представляют собой значительное бремя для отдельных лиц, семей и систем здравоохранения во всем мире. Традиционные подходы к обнаружению наркотиков в связи с этими расстройствами сталкиваются с трудностями, включая высокие издержки и длительные сроки. В последние годы в качестве многообещающего подхода к ускорению поиска новых методов лечения путем использования существующих лекарственных средств, утвержденных для других целей. В ходе этого о

Совпадение в аннотации оригинала
Neurodegenerative movement disorders, encompassing conditions such as Parkinson's disease, Huntington's disease, and amyotrophic lateral sclerosis, represent a significant burden on individuals, families, and healthcare systems globally. Traditional drug discovery approaches for these disorders have encountered challenges, including high costs and lengthy ti…

Motor Output Variability in Movement Disorders: Insights From Essential Tremor.

Findings on individuals with essential tremor suggest that tremor (within-trial movement unsteadiness) and inconsistency (trial-to-trial movement variance) stem from distinct pathologies and affect function uniquely. Nonetheless, the intricacies of inconsistency in movement disorders remain largely unexplored, as exemplified in ataxia where inconsistency below healthy levels is associated with greater pathology. We advocate for clinical assessments that quantify both tremor and inconsistency.

Diplopia in Movement Disorders: A Systematic Review of the Literature.

INTRODUCTION: Although the reported frequency of diplopia is between 10 to 40% of patients with Parkinson's disease (PD) and other movement disorders, it remains one of the most undiagnosed non-motor symptoms. Furthermore, it has a major impact on the quality of life of these patients. The aim of this study is to systematically review the literature regarding the frequency, causes, and implications of diplopia in movement disorders. METHODOLOGY: An electronic search was conducted in March and June 2023 using the PubMed database in order to identify appropriate studies. Studies that were writt…

Multimodal neuroimaging to characterize symptom-specific networks in movement disorders.

Movement disorders, such as Parkinson's disease, essential tremor, and dystonia, are characterized by their predominant motor symptoms, yet diseases causing abnormal movement also encompass several other symptoms, including non-motor symptoms. Here we review recent advances from studies of brain lesions, neuroimaging, and neuromodulation that provide converging evidence on symptom-specific brain networks in movement disorders. Although movement disorders have traditionally been conceptualized as disorders of the basal ganglia, cumulative data from brain lesions causing parkinsonism, tremor and…

Microinstability of Major Joints in Movement Disorders: The Hidden Challenge.

Microinstability, characterized by subtle and often painful disturbances in joint stability, significantly impacts individuals engaged in ac … tomical and functional characteristics that contribute to their susceptibility to microinstability. Movement disorders, such as Parkinson's disease, essential tremor, dystonia, and cerebral palsy, exacerbate joint instability due to impaired proprioception, altered muscle tone, and uncoordinated muscle contractions. Effective diagnosis involves physical examination …

Smartphone applications for Movement Disorders: Towards collaboration and re-use.

BACKGROUND: Numerous smartphone and tablet applications (apps) are available to monitor movement disorders, but an overview of their purpose and stage of development is missing. OBJECTIVES: To systematically review published literature and classify smartphone and tablet apps with objective measurement capabilities for the diagnosis, monitoring, assessment, or treatment of movement disorders. METHODS: We systematically searched for publications covering smartphone or tablet apps to monitor movement disorders until November 22nd, 2023. We reviewed the target population, measured domains, purpo…

Stem Cell Therapies in Movement Disorders: Lessons from Clinical Trials.

Stem cell-based therapies (SCT) to treat neurodegenerative disorders have promise but clinical trials have only recently begun, and results are not expected for several years. While most SCTs largely lead to a symptomatic therapeutic effect by replacing lost cell types, there may also be disease-modifying therapeutic effects. In fact, SCT may complement a multi-drug, subtype-specific therapeutic approach, consistent with the idea of precision medicine, which matches molecular therapies to biological subtypes of disease. In this narrative review, we examine published and ongoing trials in SCT i

COVID19-associated new-onset movement disorders: a follow-up study.

BACKGROUND: Neurological symptoms are common manifestation in acute COVID-19. This includes hyper- and hypokinetic movement disorders. Data on their outcome, however, is limited. METHODS: Cases with new-onset COVID-19-associated movement disorders were identified by searching the literature. Authors were contacted for outcome data which were reviewed and analyzed. RESULTS: Movement disorders began 12.6 days on average after the initial onset of COVID-19. 92% of patients required hospital admission (mean duration 23 days). In a fraction of patients (6 of 27; 22%; 4 males/2 females, mean age 6…

Movement-related beta ERD and ERS abnormalities in neuropsychiatric disorders.

Movement-related oscillations in the beta range (from 13 to 30 Hz) have been observed over sensorimotor areas with power decrease (i.e., event-related desynchronization, ERD) during motor planning and execution followed by an increase (i.e., event-related synchronization, ERS) after the movement's end. These phenomena occur during active, passive, imaged, and observed movements. Several electrophysiology studies have used beta ERD and ERS as functional indices of sensorimotor integrity, primarily in diseases affecting the motor system. Recent literature also highlights other characteristics of

Movement disorders associated with neuronal antibodies: a data-driven approach.

BACKGROUND: Movement disorders can be associated with anti-neuronal antibodies. METHODS: We conducted a systematic review of cases with documented anti-neuronal antibodies in serum and/or cerebrospinal fluid published in PubMed before April 1, 2020. Only patients with at least one movement disorder were included. We used random forests for variable selection and recursive partitioning and regression trees for the creation of a data-driven decision algorithm, integrated with expert's clinical feedback. RESULTS: Three hundred and seventy-seven studies met eligibility criteria, totaling 844 pat…

Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.

Our clinical series comprises 124 patients with movement disorders (MDs) and/or ataxia with cerebellar atrophy (CA), many of them showing signs of neurodegeneration with brain iron accumulation (NBIA). Ten NBIA genes are accepted, although isolated cases compatible with abnormal brain iron deposits are known. The patients were evaluated using standardised clinical assessments of ataxia and MDs. First, NBIA genes were analysed by Sanger sequencing and 59 patients achieved a diagnosis, including the detection of the founder mutation PANK2 p.T528M in Romani people. Then, we used a custom panel Mo…

The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders.

BACKGROUND AND OBJECTIVE: The objective of this study was to better delineate the genetic landscape and key clinical characteristics of complex, early-onset, monogenic hyperkinetic movement disorders. METHODS: Patients were recruited from 14 international centers. Participating clinicians completed standardized proformas capturing demographic, clinical, and genetic data. Two pediatric movement disorder experts reviewed available video footage, classifying hyperkinetic movements according to published criteria. RESULTS: One hundred forty patients with pathogenic variants in 17 different genes…