UNASSIGNED: Spontaneous intracranial hypotension (SIH), a treatable condition that stems from spinal leakage of cerebrospinal fluid, usually presents with orthostatic headache, nausea, vomiting, dizziness, and tinnitus. A subset of patients, especially those with sagging of brain structures (\"brain sagging syndrome\"), develop several movement abnormalities. As SIH is treatable with epidural blood patch (EBP), movement disorders neurologists should be familiar with this syndrome.
UNASSIGNED: The authors performed a literature search in PubMed in July 2024 using the Boolean phrase- ((\"Brain sagging\")OR(\"Intracranial hypotension\"))AND((((((((((\"Movement disorders\")OR(\"Involuntary movements\"))OR(\"Tremor\"))OR(\"Dystonia\"))OR(\"Chorea\"))OR(\"Ballismus\"))OR(\"Myorhythmia\"))OR (\"Tic\"))OR(\"Ataxia\"))OR(\"Parkinsonism\")).
UNASSIGNED: We tabulated 21 case reports/series that highlighted the presence of movement disorders. The most reported phenomenology is gait unsteadiness. While it usually emerges in the background of the classic SIH symptoms, rarely, patients may present with isolated gait dysfunction. Tremor is the second most reported phenomenology with postural and kinetic tremor being the common subtypes. Holmes tremor has also been reported in SIH. Other reported phenomenologies are parkinsonism, chorea, and dystonia. One study reported a unique phenomenology i.e. compulsive repetitive flexion and breath holding in 35.3% of the patients. In majority of the patients, EBP resulted in substantial clinical and radiological improvement.
UNASSIGNED: Brain sagging syndrome due to SIH may present with a wide range of movement disorders. Mechanical distortion of the posterior fossa and subcortical structures result in the emergence of such movement abnormality. SIH adds to the list of conditions that result in \"treatable movement disorders.\" Therefore, movement disorders neurologists should be versed with the diagnosis and clinical features of this condition.

Hyperekplexia is a neurologic disorder characterized by an exaggerated startle reflex in response to different types of stimuli. Hyperekplexia is defined by the triad of neonatal hypertonia, excessive startle reflexes, and generalized stiffness following the startle. Although uncommon, hyperekplexia can lead to serious consequences such as falls, brain injury, or sudden infant death syndrome.Aim of this study was to identify cases of neonatal hyperekplexia with a confirmed genetic diagnosis and to establish the genotype-phenotype correlation at onset. Articles were selected from 1993 to 2024 and PRISMA Statement was applied including newborns within 28 days of life. So, we retrieved from literature 14 cases of genetically confirmed neonatal hyperekplexia. The onset of clinical manifestations occurred in the first day of life in 8 of 14 patients (57.14%). Clinical findings were muscle stiffness (100%), startle reflex (66.66%), apnea/cyanosis (41.66%), positive nose-tapping test (33.33%), jerks (33.33%), jitteriness (25%), and ictal blinking (25%). Genes involved were GLRA1 in 9 of 14 (64.28%), SLC6A5 in 2 of 14 (14.28%), GPHN in 1 of 14 (7.14%), and GLRB in 2 of 14 (14.28%). Patients showed heterozygous (66.66%) or homozygous (33.33%) status. In 7 of 14 cases (50%), the condition occurred in other family members. A genotype-phenotype correlation was not achievable.Timely diagnosis is crucial to improve the natural history of hyperekplexia avoiding/reducing possible major complications such as sudden infant death syndrome, brain injury, and serious falls. Early differentiation from epilepsy minimizes treatment cost and improves the quality of life of patients.

Parkinson\'s Disease is a neurodegenerative disorder manifesting itself as a hypokinetic movement impairment with postural instability and gait disturbance. In case of failure and/or limited response, deep brain stimulation has been established as an alternative and effective treatment modality. However, a subset of PD patients with gait impairment represents a therapeutic challenge. A systematic review (2000-2023) was performed using PubMed, Embase, Web of Science, Scopus, and Cochrane Library databases to determine the efficacy, stimulation waveform/parameters, spine level, and outcome measures of spinal cord stimulation using different waveforms in PD patients with and without chronic pain. Spinal cord stimulation responsiveness was assessed within the pre-defined follow-up period in three groups (short-term follow-up = 0-3 months; intermediate follow-up = 3-12 months; and long-term follow-up = more than 12 months). In addition, we briefly outline alternative neurostimulation therapies and the most recent developments in closed-loop spinal cord stimulation relevant to PD. In summary, 18 publications and 70 patients from uncontrolled observational trials were included, with low-quality evidence and conflicting findings. First and foremost, the currently available data do not support the use of spinal cord stimulation to treat PD-related gait disorders but have confirmed its usefulness for PD-associated chronic pain.

The advent of computer vision technology and increased usage of video cameras in clinical settings have facilitated advancements in movement disorder analysis. This review investigated these advancements in terms of providing practical, low-cost solutions for the diagnosis and analysis of movement disorders, such as Parkinson\'s disease, ataxia, dyskinesia, and Tourette syndrome. Traditional diagnostic methods for movement disorders are typically reliant on the subjective assessment of motor symptoms, which poses inherent challenges. Furthermore, early symptoms are often overlooked, and overlapping symptoms across diseases can complicate early diagnosis. Consequently, deep learning has been used for the objective video-based analysis of movement disorders. This study systematically reviewed the latest advancements in automatic two-dimensional & three-dimensional video analysis using deep learning for movement disorders. We comprehensively analyzed the literature published until September 2023 by searching the Web of Science, PubMed, Scopus, and Embase databases. We identified 68 relevant studies and extracted information on their objectives, datasets, modalities, and methodologies. The study aimed to identify, catalogue, and present the most significant advancements, offering a consolidated knowledge base on the role of video analysis and deep learning in movement disorder analysis. First, the objectives, including specific PD symptom quantification, ataxia assessment, cerebral palsy assessment, gait disorder analysis, tremor assessment, tic detection (in the context of Tourette syndrome), dystonia assessment, and abnormal movement recognition were discussed. Thereafter, the datasets used in the study were examined. Subsequently, video modalities and deep learning methodologies related to the topic were investigated. Finally, the challenges and opportunities in terms of datasets, interpretability, evaluation methods, and home/remote monitoring were discussed.

This study aims to describe movement disorders secondary to cocaine use. To our knowledge, while these presentations have been previously reported in the literature, a comprehensive review has not been published yet. We searched six databases from 1986 to 2022 without language restriction. Case reports, case series, and literature reviews have been analysed to find associations between cocaine use and movement disorders. The present study encompasses epidemiology, clinical manifestations, pathophysiology, and diagnostic challenges of abnormal movements associated with cocaine use. This review highlights the importance of proper initial evaluation and investigation taking into account the broad spectrum of differential diagnoses and exclusion of primary movement disorders. The role of the dopaminergic system in movement disorders is reviewed. Cocaine use is associated with movement disorders such as dystonia, parkinsonism, akathisia, and tics. The complex interaction of multiple factors, including other neurological conditions, such as Tourette syndrome, and additional substances of abuse is discussed. The presentation of these manifestations is often heterogeneous and does not follow a specific pattern. In this way, future research is needed to improve our understanding of the pathophysiological mechanisms and develop novel drug targets for these disorders. Increased awareness among the general public and policymakers could translate into reduced stigma and improved care.

BACKGROUND: According to the current Parkinson\'s Disease (PD) pathogenesis hypotheses, the vagus nerve (VN) is essential for disease development. It has been identified as a main entry point for misfolded α-synuclein to the central nervous system, and surgical vagotomy appears to limit disease progress both in animal models and in humans. A recent approach tried to assess VN size in PD patients via neck ultrasonography, but the clinical value of this method is yet to be established.
BACKGROUND: A systematic search of the MEDLINE, Scopus, and Web of Science databases was conducted, and 12 case- -control studies were included. Meta-analysis revealed a modest reduction in VN size in PD (effect size - 0.79 SD (95%CI [-1.34, -0.25] p = 0.004)). The atrophy was more pronounced on the right side, and the nerve was smaller in females. In PD patients, VN reduction correlated with cardiac parasympathetic function decline and with advances in motor ratings. The discrimination potential for PD diagnosis, and any association with other non-motor domains, remains unclear.
CONCLUSIONS: VN atrophy in PD could be detected by ultrasound imaging. However, the clinical significance of this phenomenon has yet to be clarified. Size reduction is not readily apparent and is individually variable. However, it may be considered a promising means to improve early PD diagnosis and the recognition of autonomic dysfunction.
CONCLUSIONS: With more extensive research, VN sonography could provide useful evidence regarding disease origins. Imaging should be performed together with a profound clinical assessment and biomarker testing to establish the role to be played by this method in future practice.

BACKGROUND: Consultation-liaison (CL) psychiatrists are frequently asked to consult on various abnormal movements (1). CL psychiatrists can be instrumental in aiding the primary teams to identify and manage these movement disorders. In this manuscript, we provide an illustrative case of a patient presenting with myoclonus and offer a review on this important topic. Myoclonus accompanied by delirium represents a rare post-transplant complication and can be associated with heightened morbidity and mortality. The incidence of this complication in solid organ transplant recipients is scarcely documented, and its pathophysiology remains inadequately understood. Potential etiologies in the intensive care unit are numerous and likely multifactorial. The literature lacks detailed descriptions of the correlation and association between myoclonus and uremia. Management of this condition requires a multimodal approach, focusing on resolving underlying metabolic disturbances and providing symptomatic treatment.
OBJECTIVE: This manuscript describes the clinical presentation of myoclonus in a liver transplant recipient accompanied by delirium and precipitated by uremia. We aim to highlight the diagnostic and therapeutic complexities, help providers distinguish myoclonus from other movement disorders, and aid appropriate management.
RESULTS: We present a case of acute myoclonus in an elderly female liver transplant recipient precipitated by uremia and improved after continuous renal replacement treatment. In addition, we conducted a systematic review utilizing EMBASSE and PubMed of reported cases of myoclonus, delirium, and/or encephalopathy accompanied by uremia. We included 12 manuscripts in our review and discussed their findings.
CONCLUSIONS: CL psychiatrists are frequently consulted for a range of movement disorders in the intensive care unit, including myoclonus. Accurate diagnosis and identification of contributing etiologies are critical in these cases. Management typically involves addressing the underlying disorder, such as using dialysis for uremia, alongside symptomatic treatment with benzodiazepines to mitigate the frequency and amplitude of myoclonus. This approach helps to alleviate both the physical burden and psychological distress associated with the condition. This case underscores the pivotal role of the CL psychiatrist within a complex multidisciplinary team, contributing to diagnostic precision and optimization of management strategies for movement disorders.

The purpose of this study is to investigate the diagnostic and prognostic role of cerebrospinal fluid (CSF) biomarkers in the diagnostic work-up of glucose transporter 1 (GLUT1) deficiency. Reported here is a systematic review according to PRISMA guidelines collecting clinical and biochemical data about all published patients who underwent CSF analysis. Clinical phenotypes were compared between groups defined by the levels of CSF glucose (≤ 2.2 mmol/L versus > 2.2 mmol/L), CSF/blood glucose ratio (≤ 0.45 versus > 0.45), and CSF lactate (≤ 1 mmol/L versus > 1 mmol/L). Five hundred sixty-two patients fulfilled the inclusion criteria with a mean age at the diagnosis of 8.6 ± 6.7 years. Patients with CSF glucose ≤ 2.2 mmol/L and CSF/blood glucose ratio ≤ 0.45 presented with an earlier onset of symptoms (16.4 ± 22.0 versus 54.4 ± 45.9 months, p < 0.01; 15.7 ± 23.8 versus 40.9 ± 38.0 months, p < 0.01) and received an earlier molecular genetic confirmation (92.1 ± 72.8 versus 157.1 ± 106.2 months, p < 0.01). CSF glucose ≤ 2.2 mmol/L was consistently associated with response to ketogenic diet (p = 0.018) and antiseizure medications (p = 0.025). CSF/blood glucose ratio ≤ 0.45 was significantly associated with absence seizures (p = 0.048), paroxysmal exercise-induced dyskinesia (p = 0.046), and intellectual disability (p = 0.016) while CSF lactate > 1 mmol/L was associated with a response to antiseizure medications (p = 0.026) but not to ketogenic diet.Conclusions:This systematic review supported the diagnostic usefulness of lumbar puncture for the early identification of patients with GLUT1 deficiency responsive to treatments especially if they present with co-occurring epilepsy, movement, and neurodevelopmental disorders. What is Known: • Phenotypes of GLUT1 deficiency syndrome range between early epileptic and developmental encephalopathy to paroxysmal movement disorders and developmental impairment What is New: • CSF blood/glucose ratio may predict better than CSF glucose the diagnosis in children presenting with early onset absences • CSF blood/glucose ratio may predict better than CSF glucose the diagnosis in children presenting with paroxysmal exercise induced dyskinesia and intellectual disability. • CSF glucose may predict better than CSF blood/glucose and lactate the response to ketogenic diet and antiseizure medications.

Background: People with rare neurological diseases (RNDs) often experience symptoms related to movement disorders, requiring a multidisciplinary approach, including rehabilitation. Telemedicine applied to rehabilitation and symptom monitoring may be suitable to ensure treatment consistency and personalized intervention. The objective of this scoping review aimed to emphasize the potential role of telerehabilitation and teleassessment in managing movement disorders within RNDs. By providing a systematic overview of the available literature, we sought to highlight potential interventions, outcomes, and critical issues. Methods: A literature search was conducted on PubMed, Google Scholar, IEEE, and Scopus up to March 2024. Two inclusion criteria were followed: (1) papers focusing on telerehabilitation and teleassessment and (2) papers dealing with movement disorders in RNDs. Results: Eighteen papers fulfilled the inclusion criteria. The main interventions were home-based software and training programs, exergames, wearable sensors, smartphone applications, virtual reality and digital music players for telerehabilitation; wearable sensors, mobile applications, and patient home video for teleassessment. Key findings revealed positive outcomes in gait, balance, limb disability, and in remote monitoring. Limitations include small sample sizes, short intervention durations, and the lack of standardized protocols. Conclusion: This review highlighted the potential of telerehabilitation and teleassessment in addressing movement disorders within RNDs. Data indicate that these modalities may play a major role in supporting conventional programs. Addressing limitations through multicenter studies, longer-term follow-ups, and standardized protocols is essential. These measures are essential for improving remote rehabilitation and assessment, contributing to an improved quality of life for people with RNDs.

Parkinsonian disorders, including Parkinson\'s disease (PD), multiple system atrophy (MSA), dementia with Lewy body (DLB), corticobasal syndrome (CBS) and progressive supranuclear palsy (PSP) are often misdiagnosed due to overlapping symptoms and the absence of precise biomarkers. Furthermore, there are no current methods to ascertain the progression and conversion of prodromal conditions such as REM behaviour disorder (RBD). Extracellular vesicles (EVs), containing a mixture of biomolecules, have emerged as potential sources for parkinsonian diagnostics. However, inconsistencies in previous studies have left their diagnostic potential unclear. We conducted a meta-analysis, following PRISMA guidelines, to assess the diagnostic accuracy of general EVs isolated from various bodily fluids, including cerebrospinal fluid (CSF), plasma, serum, urine or saliva, in differentiating patients with parkinsonian disorders from healthy controls (HCs). The meta-analysis included 21 studies encompassing 1285 patients with PD, 24 with MSA, 105 with DLB, 99 with PSP, 101 with RBD and 783 HCs. Further analyses were conducted only for patients with PD versus HCs, given the limited number for other comparisons. Using bivariate and hierarchal receiver operating characteristics (HSROC) models, the meta-analysis revealed moderate diagnostic accuracy in distinguishing patients with PD from HCs, with substantial heterogeneity and publication bias. The trim-and-fill method revealed at least two missing studies with null or low diagnostic accuracy. CSF-EVs showed better overall diagnostic accuracy, while plasma-EVs had the lowest performance. General EVs demonstrated higher diagnostic accuracy compared to CNS-originating EVs, which are more time-consuming, labour- and cost-intensive to isolate. In conclusion, while holding promise, utilizing biomarkers in general EVs for PD diagnosis remains unfeasible due to existing challenges. The focus should shift toward harmonizing the field through standardization, collaboration, and rigorous validation. Current efforts by the International Society For Extracellular Vesicles (ISEV) aim to enhance the accuracy and reproducibility of EV-related research through rigor and standardization, aiming to bridge the gap between theory and practical clinical application.