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Functional movement disorder (FMD) is a common manifestation of functional neurological disorder. FMD can occur alongside other neurological conditions, but especially in patients with established Parkinson's disease (PD). An interesting observation emerging across cohort studies and case series is that FMD can precede the diagnosis of PD, suggesting that FMD may itself be a prodromal symptom of neurodegeneration. Such a notion would have significant clinical implications for the assessment and management of people with FMD, particularly with respect to decisions around the use of auxiliary investigations, counselling, and follow‐up. In this Viewpoint we review the evidence concerning the temporal relationship between FMD and PD. We discuss the potential explanations and mechanisms for FMD as a prodromal symptom of PD, and highlight clinical considerations and important outstanding questions in the field. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]

Objective: Multitasking is an essential part of everyday functioning often not formally assessed by traditional neuropsychological tests. Although individuals with Parkinson's disease (PD) experience both motor and cognitive difficulties, previous research has demonstrated more pronounced functional difficulties with the presence of mild cognitive impairment (PD-MCI). The current study compared individuals with PD-MCI, PD with normal cognition (PD-NC), and healthy controls on a naturalistic task of multitasking, the Day Out Task (DOT). Method: Participants were 38 healthy older adults (HOA), 23 individuals with PD-NC, and 15 individuals with PD-MCI. Participants completed a battery of neuropsychological tasks and the DOT. Informants also completed a self-reported questionnaire of participants' everyday executive functioning. Results: Compared to PD-NC and HOA, participants with PD-MCI were less accurate and efficient and took longer to complete the DOT. After controlling for motor performance, only DOT accuracy remained worse, with poorer accuracy resulted from more subtasks being left incomplete or being completed inaccurately by the PD-MCI group. DOT sequencing was a significant predictor of informant reported everyday dysexecutive symptoms. Conclusions: The findings highlight that individuals with PD-MCI are likely to experience difficulties completing complex everyday tasks due to both motor and cognitive impairments. Clinicians may therefore recommend strategies to support efficiency and accuracy in complex tasks of everyday functioning in treatment considerations. [ABSTRACT FROM AUTHOR]

Introduction: Profuse diarrhea and abdominal discomfort are well-documented symptoms of patients with known colorectal cancer. It is much less common for these patients to present with a chief complaint of gait disturbance and rhabdomyolysis. We present a case of incidentally discovered colorectal carcinoma in a patient who was initially evaluated for progressive weakness and recurrent falls. Case Presentation: A 51-year-old man was admitted to our department for management of rhabdomyolysis in the setting of progressive lower extremity weakness and mechanical falls. He developed abdominal discomfort and bowel changes during his admission, and after further investigation, he was found to have a rectal polyp positive for invasive adenocarcinoma, as well as multiple gluteal abscesses. Workup for metastasis, mutations, and oncogenic biomarkers was unremarkable. Conclusion: This case is a demonstration of a medically complex patient presentation compounded by multifactorial processes. Future providers may take note that an initial absence of classic gastrointestinal (GI) symptoms does not necessarily rule out underlying GI cancer. Instead, the initial presentation of colorectal adenocarcinoma may manifest with paraneoplastic versus incidental progressive proximal limb weakness prior to GI symptoms such as diarrhea. Additionally, our report demonstrates a case of possible paraneoplastic gluteal abscesses, which may have further contributed to the patient’s gait disturbance. However, it is unclear as to whether our patient’s various symptoms were directly linked to one another, or if they were incidental co-presentations. [ABSTRACT FROM AUTHOR]

ABSTRACT Background Objective Methods Results Conclusions Accurate classification is essential for addressing childhood movement disorders (MD), but the common coexistence of multiple MDs complicates this process.The aim was to assess inter‐rater agreement on classifying hyperkinetic MDs among pediatric neurologists with expertise in MDs.Five pediatric neurologists were requested to examine 112 videos of 66 pediatric patients. Based on the Movement Disorder‐Childhood Rating Scale, 3 queries were posed: (Q1) Is there more than 1 MD? (Q2) What is the (predominant) MD? (Q3) What is the other MD (if present)?The final agreement rates were 57.5% for Q1, 66.6% for Q2, and 43.9% for absolute agreement. All videos with absolute agreement at the first evaluation featured 1 MD, whereas only 2 videos with multiple MDs could totally agree in the final review.This study reveals significant discordance in classification even among pediatric neurologists with expertise in MDs and highlights the necessity for a standardized approach. [ABSTRACT FROM AUTHOR]

ABSTRACT Plasma membrane calcium ATPases (PMCAs) encoded by ATP2B genes have been implicated in Mendelian diseases with ataxia, dystonia, and intellectual disability. Work to date has shown that ATP2B2 (encoding PMCA2) is required for synaptic function and Purkinje‐cell integrity in the cerebellum. A recent case series has linked ATP2B2 to a novel entity, characterized by neurodevelopmental and movement phenotypes, in only seven individuals. We called for collaboration to collect five unpublished families affected by the new rare ATP2B2‐related condition. Exome‐/genome sequencing‐identified genotypes included four likely pathogenic/pathogenic heterozygous de novo missense variants and one dominantly inherited end‐truncating frameshift allele. The six affected individuals shared features with the described patients including developmental delay, cognitive disturbances, epilepsy, autistic traits, and motor disorders. Striking cerebellar atrophy was observed in one affected individual. In association with hearing loss and movement abnormalities, we report a recurrent p.(Glu457Lys) substitution, previously documented in a neurologically impaired ATP2B2 mouse mutant. Our study further delineates the mutational spectrum and presentation of a human syndrome caused by ATP2B2 variants, confirming the importance of PMCA2 in neurotypical and cerebellar development. [ABSTRACT FROM AUTHOR]

Task-specific focal dystonia (TSFD), characterized by the loss of fine motor control and coordination, affects drummers' lower-limb movements. This study explores lower-limb dystonia's impact on drumming performance and underlying muscle activity in a professional rock drummer. The drummer executed an eight-beat pattern on a drum kit. The participant reported the occurrence of symptoms when he felt the abnormality such as the loss of control related to involuntary aspects of movement. We measured the peak amplitude of the bass drumhead vibration, synchronization errors as the time elapsed between the metronome onset and the bass drum onset, and amplitude of electromyographic (EMG) recordings centered on metronome beat. Dystonia symptoms primarily manifested in the initial beat, with fewer symptoms on syncopation of the third beat. Analysis revealed decreased bass-drum peak amplitude and earlier synchronization error during the initial beat. EMG measurements of 10 muscles in the affected right lower limb showed significant changes in the Biceps Femoris (BF), Tibialis Anterior (TA), Extensor Digitorum Longus (EDL), and Extensor Digitorum Brevis (EDB) muscles during symptom onset. We observed (1) earlier overactivation of the TA and EDL muscles during the leg lift-up motion or preparatory phase of pedaling, (2) reduced activation of the EDB muscle, and (3) increased activation of the BF muscle during the final pedaling movement when symptoms occurred. These findings suggest that lower-limb dystonia symptoms are characterized by a reduction in amplitude of the bass drumhead vibration and an increase in synchronization error, potentially due to premature overactivation of the ankle dorsiflexor muscles. [ABSTRACT FROM AUTHOR]

Acute presentation of severe motor disorders is a diagnostic and management challenge. We define severe acute motor exacerbations (SAME) as acute/subacute motor symptoms that persist for hours‐to‐days with a severity that compromise vital signs (temperature, breath, and heart rate) and bulbar function (swallowing/dysphagia). Phenomenology includes dystonia, choreoathetosis, combined movement disorders, weakness, and hemiplegic attacks. SAME can develop in diverse diseases and can be preceded by triggers or catabolic states. Recent descriptions of SAME in complex neurodevelopmental and epileptic encephalopathies have broadened appreciation of this presentation beyond inborn errors of metabolism. A high degree of clinical suspicion is required to identify appropriately targeted investigations and management. We conducted a comprehensive literature analysis of etiologies. Reported triggers are described and classified as per pathophysiological mechanism. A video of six cases displaying multiple SAME with diverse outcomes is provided. We identified 50 different conditions that manifest SAME, some associated with developmental regression. Etiologies include disorders of metabolism: energy substrate, amino acids, complex molecules, vitamins/cofactors, minerals, and neurotransmitters/synaptic vesicle cycling. Non‐metabolic neurodegenerative and genetic disorders that present with movement disorders and epilepsy can additionally manifest SAME. A limited number of triggers are grouped here, together with an approach to investigations and general management strategies. Several neurogenetic and neurometabolic disorders manifest SAME. Identifying triggers can help in certain cases narrow the differential diagnosis and guide the expeditious application of targeted therapies to minimize adverse developmental and neurological consequences. This process may inform pathogenesis and eventually improve our understanding of the mechanisms that lead to the development of SAME. © 2024 International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]

This article discusses two case reports of children with neurotransmitter disorders associated with dual pathology. The first patient presented with global developmental delay and was initially diagnosed with a chromosomal microdeletion. However, further evaluation revealed a deficiency in the GCH1 gene, which was treated with Sinemet (levodopa/carbidopa) and resulted in significant improvement. The second patient had symptoms attributed to prematurity and periventricular leukomalacia, but whole genome sequencing revealed a diagnosis of sepiapterin reductase deficiency (SRD). Treatment with Sinemet and 5-hydroxytryptophan led to an excellent response. The article emphasizes the importance of recognizing red flags for neurotransmitter disorders and avoiding premature diagnostic closure. [Extracted from the article]

This case report details the clinical presentation, diagnosis, management and prognosis of paroxysmal dyskinesia (PD) in four small‐breed dogs, each weighing under 6 kg: A 7‐year‐old spayed female Pomeranian, an 8‐year‐old female mixed breed, a 1‐year‐old female Pomeranian and a 9‐year‐old castrated male Poodle. These dogs were referred to our hospital due to movement disorders. Diagnosis was facilitated by video recordings of the episodes, assessing motor activity, consciousness, episode duration, any pre‐ or post‐episodic behaviour as well as the presence of autonomic signs. Magnetic resonance imaging conducted on two of the dogs returned unremarkable results. Treatment trials included a gluten‐free diet for all four dogs, with two also receiving acetazolamide. This intervention led to a decrease in the frequency of abnormal movement in all patients. Our findings suggest that PD in dogs can be effectively diagnosed through detailed symptom description using videos and questionnaires. Furthermore, once diagnosed, a combination of nutritional and medical management can be beneficial. [ABSTRACT FROM AUTHOR]

Full-length RIM1 and 2 are key components of the presynaptic active zone that ubiquitously control excitatory and inhibitory neurotransmitter release. Here, we report that the function of the small RIM isoform RIM4, consisting of a single C2 domain, is strikingly different from that of the long isoforms. RIM4 is dispensable for neurotransmitter release but plays a postsynaptic, cell type-specific role in cerebellar Purkinje cells that is essential for normal motor function. In the absence of RIM4, Purkinje cell intrinsic firing is reduced and caffeine-sensitive, and dendritic integration of climbing fibre input is disturbed. Mice lacking RIM4, but not mice lacking RIM1/2, selectively in Purkinje cells exhibit a severe, hours-long paroxysmal dystonia. These episodes can also be induced by caffeine, ethanol or stress and closely resemble the deficits seen with mutations of the PNKD (paroxysmal non-kinesigenic dystonia) gene. Our data reveal essential postsynaptic functions of RIM proteins and show non-overlapping specialized functions of a small isoform despite high homology to a single domain in the full-length proteins. [ABSTRACT FROM AUTHOR]

Introduction: Profuse diarrhea and abdominal discomfort are well-documented symptoms of patients with known colorectal cancer. It is much less common for these patients to present with a chief complaint of gait disturbance and rhabdomyolysis. We present a case of incidentally discovered colorectal carcinoma in a patient who was initially evaluated for progressive weakness and recurrent falls. Case Presentation: A 51-year-old man was admitted to our department for management of rhabdomyolysis in the setting of progressive lower extremity weakness and mechanical falls. He developed abdominal discomfort and bowel changes during his admission, and after further investigation, he was found to have a rectal polyp positive for invasive adenocarcinoma, as well as multiple gluteal abscesses. Workup for metastasis, mutations, and oncogenic biomarkers was unremarkable. Conclusion: This case is a demonstration of a medically complex patient presentation compounded by multifactorial processes. Future providers may take note that an initial absence of classic gastrointestinal (GI) symptoms does not necessarily rule out underlying GI cancer. Instead, the initial presentation of colorectal adenocarcinoma may manifest with paraneoplastic versus incidental progressive proximal limb weakness prior to GI symptoms such as diarrhea. Additionally, our report demonstrates a case of possible paraneoplastic gluteal abscesses, which may have further contributed to the patient’s gait disturbance. However, it is unclear as to whether our patient’s various symptoms were directly linked to one another, or if they were incidental co-presentations.

Belly dancer’s dyskinesia (BDD) is characterized by involuntary abdominal wall movements that are rhythmic, repetitive, and dyskinetic. The present study aims to review BDD’s etiology, pathophysiology, and management. We searched six databases to locate existing reports on BDD published from 1990 to October 2023 in electronic form. A total of 47 articles containing 59 cases were found. The majority of the patients affected by BDD were female, accounting for 61.01% (36/59) of the cases. The mean and median ages were 49.8 (standard deviation: 21.85) and 52 years (range: 7–85), respectively. The BDD was unilateral in only 3.38% (2/59). The most commonly reported causes associated with BDD were 17 idiopathic, 11 drug-induced, 11 postsurgical procedures, 5 pregnancies, and 4 Vitamin B12 deficiencies. BDD is a diagnosis of exclusion, and other more common pathologies with similar presentation should be ruled out initially. Differential diagnostic reasoning should include diaphragmatic myoclonus, cardiac conditions, truncal dystonia, abdominal motor seizures, propriospinal myoclonus, and functional or psychiatric disorders.

Chorea is a hyperkinetic movement disorder frequently observed in the pediatric population, and, due to advancements in genetic techniques, an increasing number of genes have been associated with this disorder. In genetic conditions, chorea may be the primary feature of the disorder, or be part of a more complex phenotype characterized by epileptic encephalopathy or a multisystemic syndrome. Moreover, it can appear as a persistent disorder (chronic chorea) or have an episodic course (paroxysmal chorea). Managing chorea in childhood presents challenges due to its varied clinical presentation, often involving a spectrum of hyperkinetic movement disorders alongside neuropsychiatric and multisystemic manifestations. Furthermore, during infancy and early childhood, transient motor phenomena resembling chorea occurring due to the rapid nervous system development during this period can complicate the diagnosis. This review aims to provide an overview of the main genetic causes of pediatric chorea that may manifest during infancy and early childhood, focusing on peculiarities that can aid in differential diagnosis among different phenotypes and discussing possible treatment options.

Spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal dominant movement disorders. Among the SCAs associated with impaired ion channel function, SCA19/22 is caused by pathogenic variants in KCND3, which encodes the voltage‐gated potassium channel Kv4.3. SCA19/22 is clinically characterized by ataxia, dysarthria and oculomotor dysfunction in combination with other signs and symptoms, including mild cognitive impairment, peripheral neuropathy and pyramidal signs. The known KCND3 pathogenic variants are localized either in the transmembrane segments, the connecting loops, or the C‐terminal region of Kv4.3. We have identified a novel pathogenic variant, c.455A>G (p.D152G), localized in the N‐terminus of Kv4.3. It is located in the immediate neighbourhood of the T1 domain, which is responsible for multimerization with the β‐subunit KChIP2b and thus for the formation of functional heterooctamers. Electrophysiological studies showed that p.D152G does not affect channel gating, but reduces the ionic current in Kv4.3, even though the variant is not located in the transmembrane domains. Impaired channel trafficking to the plasma membrane may contribute to this effect. In a patient with a clinical picture corresponding to SCA19/22, p.D152G is the first pathogenic variant in the N‐terminus of Kv4.3 to be described to date with an effect on ion channel activity. [ABSTRACT FROM AUTHOR]

Paroxysmal dyskinesias (PDs) are a group of involuntary, hyperkinetic movement disorders that recur episodically and may last seconds to hours. An important feature of PD is that there is no loss of consciousness during the episode. Using a clinical classification, three main types of PDs have been distinguished in canine PD: (1) paroxysmal kinesigenic dyskinesia (PKD) that commences after (sudden) movements, (2) paroxysmal non-kinesigenic dyskinesia (PNKD) not associated with exercise and can occur at rest, and (3) paroxysmal exertioninduced dyskinesia (PED) associated with fatigue. Canine PDs are diagnosed based on the clinical presentation, history, and phenomenology. For the latter, a video recording of the paroxysmal event is extremely useful. An etiological classification of canine PDs includes genetic (proven and suspected), reactive (drug-induced, toxic, metabolic, and dietary), structural (neoplasia, inflammatory, and other structural causes), and unknown causes. In this review, an overview of all reported canine PDs is provided with emphasis on phenotype, genotype, and, where possible, pathophysiology and treatment for each reported canine PD. [ABSTRACT FROM AUTHOR]

Since the initial description of glucose transporter-1 deficiency syndrome (Glut1-DS) the phenotype of the condition has expanded, even leading to the recognition of atypical manifestations. We report on eight patients with Glut1-DS who experienced at least one episode of acute focal neurological deficits. We conducted a retrospective analysis, collecting clinical, electrophysiological, neuroradiological, and genetic information. We focused in particular on three well-documented cases. Among 42 patients with Glut1-DS, eight individuals aged between six and 38 years presented with an acute onset of neurological disturbances: dysarthria/aphasia, oral dyskinesia, swallowing difficulties, paresthesia, facial palsy, hemi/monoplegia, vomiting, headache, and behavioral disturbances. When performed, magnetic resonance imaging (MRI) revealed signs of venous congestion and hypoperfusion and electroencephalography showed focal contralateral slowing. Deficits were transient in all patients but one. Four patients (50%) were on a ketogenic diet (KD), and two of these patients had lower than usual ketonemia levels during the episode. In two patients, MRI demonstrated the presence of an ischemic brain lesion. In Glut1-DS, stroke-like episodes are a recurrent manifestation, particularly during early adulthood, and they were reported in 19% of the patients in our cohort. Stroke mimics should be considered a key feature of Glut1-DS, as other paroxysmal disorders. It remains to be established whether a KD can prevent the recurrence of episodes and, if so, at what level of ketosis. Further observations are needed to confirm the correlation between Glut1-DS and ischemic stroke. [ABSTRACT FROM AUTHOR]

Our objective was to provide expert consensus on best practices for anatomy teaching and training on ultrasound-guided botulinum neurotoxin type A (BoNT-A) injection for specialists involved in treating spasticity and dystonia. Nine experts (three neurologists; six physical medicine and rehabilitation physicians) participated in a three-round modified Delphi process. Over three rounds, experts reached consensus on 15 of 16 statements describing best practices for anatomy and BoNT-A injection training. They unanimously agreed that knowledge of the target audience, including their needs and current competency, is crucial when designing training programs. Experts also agreed that alignment between instructors is essential to ensure consistency of approach over time and between regions, and that training programs should be simple, adaptable, and "hands-on" to enhance engagement and learning. Consensus was also reached for several other key areas of training program development. The best-practice principles identified by expert consensus could aid in the development of effective, standardized programs for anatomy teaching and BoNT-A injection training for the purposes of treating spasticity and dystonia. This will enhance the exchange of knowledge, skills, and educational approaches between global experts, allowing more specialists to treat important movement disorders and ultimately improving patient outcomes. [ABSTRACT FROM AUTHOR]

Functional neurosurgery involves the surgical management of a wide range of neurological diseases with the aim of treating conditions such as movement disorders, spasticity, epilepsy and intractable pain. Functional neurosurgery began with ablative surgical techniques involving destruction of neural structures responsible for the aberrant neural pathways/networks causing pathology. In more recent years there has been a move away from the creation of permanent destructive lesions towards modulation of the neural networks utilizing neuro-modulation. Neuromodulation therapies include invasive (e.g. deep brain stimulators, cortical stimulators, vagal nerve stimulators and spinal cord stimulators) and non-invasive (e.g. transcranial magnetic stimulation) approaches that involve the application of electrical stimulation to drive or inhibit neural function within a circuit. Most implantable neuromodulation systems include three primary components: stimulating electrode(s) with contacts at the tip through which electricity is delivered, an implantable pulse generator (IPG) that serves as a signal generator/battery pack, and the extension cable(s) to subcutaneously connect the electrode(s) to the IPG. In this article we primarily focus on the current role of neuromodulation in treating movement disorders, epilepsy and pain, and also consider emerging and evolving applications. [ABSTRACT FROM AUTHOR]

Copyright of Hungarian Medical Journal / Orvosi Hetilap is the property of Akademiai Kiado and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction: Wilson's disease (WD) is associated with a variety of movement disorders and progressive neurological dysfunction. The aim of this study was to correlate baseline brain magnetic resonance imaging (MRI) features with clinical phenotype and long-term outcomes in chronically treated WD patients. Methods: Patients were retrospectively selected from an institutional database. Two experienced neuroradiologists reviewed baseline brain MRI. Functional assessment was performed using the World Health Organization Disability Assessment Schedule 2.0 (WHODAS 2.0) scale, and disease severity was classified using the Global Assessment Scale for Wilson's Disease (GASWD). Results: Of 27 patients selected, 14 were female (51.9%), with a mean (standard deviation [SD]) age at onset of 19.5 (7.1) years. Neurological symptoms developed in 22 patients (81.5%), with hyperkinetic symptoms being the most common (70.4%). Baseline brain MRI showed abnormal findings in 18 cases (66.7%), including T2 hyperintensities in 59.3% and atrophy in 29.6%. After a mean (SD) follow-up of 20.9 (11.0) years, WD patients had a mean score of 19.2 (10.2) on WHODAS 2.0 and 6.4 (5.7) on GASWD. The presence of hyperkinetic symptoms correlated with putaminal T2 hyperintensities (p = 0.003), putaminal T2 hypointensities (p = 0.009), and mesencephalic T2 hyperintensities (p = 0.009). Increased functional disability was associated with brain atrophy (p = 0.007), diffusion abnormalities (p = 0.013), and burden of T2 hyperintensities (p = 0.002). A stepwise regression model identified atrophy as a predictor of increased WHODAS 2.0 (p = 0.023) and GASWD (p = 0.007) scores. Conclusions: Atrophy and, to a lesser extent, deep T2 hyperintensity are associated with functional disability and disease severity in long-term follow-up of WD patients. [ABSTRACT FROM AUTHOR]

Copyright of Gyermekgyógyászat is the property of Semmelweis Kiado and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Background: Patients with Parkinson's disease (PD) often report chronic pain, which is one of the most complex non‐motor symptoms. Therefore, this study aims to review the literature on the characteristics of pain in patients with PD. Methods: A systematic literature review was conducted following MOOSE recommendations. Observational studies reporting pain in patients with PD were included. No time restrictions were applied, but studies in Portuguese, Spanish, and English were considered. The search was performed in PubMed®, LILACS, and SciELO databases. Results: Twenty‐six articles of observational studies were identified, reporting an average pain prevalence of 67.36%, emphasizing the significance of this symptom in the PD population. Pain was reported in various body regions, including lower limbs, upper limbs, lumbar spine, cervical spine, and other joints. Pain classification varied, encompassing musculoskeletal pain, PD‐related pain, neuropathic pain, and dystonic pain, among others. Discussion: Pain in patients with PD is a prevalent and multifactorial condition, significantly impacting patients' quality of life. Conclusion: Heterogeneity in data across included studies was observed, highlighting the need for additional research to elucidate the underlying mechanisms of pain in patients with PD and develop effective therapeutic strategies to address this symptom and improve the quality of life for individuals living with the disease. [ABSTRACT FROM AUTHOR]

ARV1 mutation is known to present as developmental and epileptic encephalopathy (DEE)-38. However, the phenotypic spectrum has been expanding ever since it was reported in 2016. Along with seizures and developmental delay, other unique clinical features include ophthalmological abnormalities and movement disorders in the form of ataxia and dystonia, especially in those with missense mutation. These manifestations closely mimic ataxia telangiectasia. Elevation of alpha-fetoprotein levels is an important investigative marker in the diagnosis of ataxia telangiectasia and ataxia with oculomotor apraxia syndromes. ARV1 can also be associated with increased alpha-fetoprotein. There are no reports evaluating alpha-fetoprotein levels in cases with ARV1 mutation, which is significant in the context of ocular abnormalities with ataxia. We report a case of ARV1 mutation presenting with ataxia, ocular abnormalities, and elevated alpha-fetoprotein levels, thus mimicking autosomal recessive cerebellar ataxias. This study provides a comprehensive literature review of the cases reported so far, thus expanding the understanding of the spectrum of presentation, and helps in correlating the clinical picture with the underlying causative genetic mutation. ARV1 gene is another example of one gene with phenotypic pleiotropy. Though presentation with DEE is common, a few, especially those with missense mutations, can present with ataxia and ocular abnormalities. All cases presenting with ataxia who have increased alpha-fetoprotein levels and seizures should be tested for the ARV1 gene, when testing for ataxia genes is negative. The underlying genetic mechanism can explain the varying clinical manifestations of the ARV1 gene. [ABSTRACT FROM AUTHOR]

Background: Genetic syndromes of hyperkinetic movement disorders associated with epileptic encephalopathy and intellectual disability are becoming increasingly recognized. Recently, a de novo heterozygous NACC1 (nucleus accumbens‐associated 1) missense variant was described in a patient cohort including one patient with a combined mitochondrial oxidative phosphorylation (OXPHOS) deficiency. Objectives: The objective is to characterize the movement disorder in affected patients with the recurrent c.892C>T NACC1 variant and study the NACC1 protein and mitochondrial function at the cellular level. Methods: The movement disorder was analyzed on four patients with the NACC1 c.892C>T (p.Arg298Trp) variant. Studies on NACC1 protein and mitochondrial function were performed on patient‐derived fibroblasts. Results: All patients had a generalized hyperkinetic movement disorder with chorea and dystonia, which occurred cyclically and during sleep. Complex I was found altered, whereas the other OXPHOS enzymes and the mitochondria network seemed intact in one patient. Conclusions: The movement disorder is a prominent feature of NACC1‐related disease. [ABSTRACT FROM AUTHOR]

The ANKFY1 gene encodes a protein that belongs to double zinc finger proteins involved in endocytosis. Only one family with steroid-resistant nephrotic syndrome has been reported carrying a homozygous variant in ANKFY1 so far. Here we describe the second case where a 13-year-old boy presented with infantile-onset proteinuria and movement disorder. Whole-exome sequencing showed compound heterozygous variants (NM_001330063.2: c.2753C>G; p.Ser918Ter, and c.3287–11_3287–10del) in ANKFY1. In vitro functional study revealed the two variants led to reduced protein expression level of ANKFY1. This is the first case of co-existence of renal and nervous system phenotypes in a child with variants in ANKFY1, suggesting that bi-allelic variants in ANKFY1 might be associated with a new neuro-renal syndrome. [ABSTRACT FROM AUTHOR]

Brain changes at the end-stage of fragile X-associated tremor/ataxia syndrome (FXTAS) are largely unknown due to mobility impairment. We conducted a postmortem MRI study of FXTAS to quantify cerebrovascular disease, brain atrophy and iron content, and examined their relationships using principal component analysis (PCA). Intracranial hemorrhage (ICH) was observed in 4/17 FXTAS cases, among which one was confirmed by histologic staining. Compared with seven control brains, FXTAS cases showed higher ratings of T2-hyperintensities (indicating cerebral small vessel disease) in the cerebellum, globus pallidus and frontoparietal white matter, and significant atrophy in the cerebellar white matter, red nucleus and dentate nucleus. PCA of FXTAS cases revealed negative associations of T2-hyperintensity ratings with anatomic volumes and iron content in the white matter, hippocampus and amygdala, that were independent from a highly correlated number of regions with ICH and iron content in subcortical nuclei. Post-hoc analysis confirmed PCA findings and further revealed increased iron content in the white matter, hippocampus and amygdala in FXTAS cases compared to controls, after adjusting for T2-hyperintensity ratings. These findings indicate that both ischemic and hemorrhagic brain damage may occur in FXTAS, with the former being marked by demyelination/iron depletion and atrophy, and the latter by ICH and iron accumulation in basal ganglia.

IntroductionDespite using beta oscillations within the subthalamic nucleus as a biomarker of akinesia or rigidity in Parkinson’s disease, a specific biomarker for freezing of gait (FOG) remains unclear. Recently, scalp phase-amplitude coupling (PAC) measured through scalp electroencephalography (EEG) has emerged as a promising tool for analyzing brain function. In this study, we examined whether PAC could be a biomarker for FOG.MethodsWe enrolled 11 patients with Parkinson’s disease and recorded scalp EEG in preparation for and during gait while simultaneously assessing motor function, including FOG. We investigated changes in cortical PAC during walking with and without FOG and examined its correlation with the postural instability and gait difficulty (PIGD) score.ResultsPatient characteristics were as follows: mean age 59.1 ± 6.9 years, disease duration 13.9 ± 4.1 years, and seven men. Four trials were excluded from the analysis owing to artifacts. In the trials without FOG (n = 18), beta-gamma PAC in the sensorimotor area decreased during gait preparation (p = 0.011; linear mixed-effects model), which was not the case in trials with FOG (n = 6) (p = 0.64; linear mixed-effects model). Using a support vector machine, machine learning of PAC during preparation for walking predicted the presence of FOG with an accuracy of 71.2%. Conversely, PAC increased during walking in trials with FOG (p = 0.0042; linear mixed-effects model), and PAC 20 s after the start of walking was positively correlated with the PIGD score (correlation coefficient = 0.406, p = 0.032; Pearson’s rank correlation).ConclusionBeta-gamma PAC in the sensorimotor area during preparation for walking differs depending on the emergence of FOG. As gait symptoms worsened, beta-gamma PAC in the sensorimotor area during walking gradually increased. Cortical PAC may be a biomarker for FOG in Parkinson’s disease and may lead to the development of strategies to prevent falls in the future.

Buspirone is an anxiolytic agent. The most common side effect reported with the use of buspirone is dizziness. Movement disorders associated with buspirone were rarely described. A 20-year-old female was diagnosed with generalized anxiety disorder. She was started on buspirone, and the dose was progressively increased. Despite therapy, for 14 days, the patient did not report any improvement in symptoms, and the general practitioner increased the dosage to 10 mg three times a day. On day 28th of buspirone therapy, she reported progressive neck stiffness within one day of onset. On examination, right lateralization of the neck was seen. Laboratory tests, neuroimaging, and electroencephalogram were unremarkable. She was started on intravenous diphenhydramine. Within 2 hours, the symptoms improved. The subject retook the buspirone and developed the same symptoms. She was started on intravenous diphenhydramine, and symptomatic improvement was seen. Due to repeated instances of adverse drug events occurring, buspirone was discontinued. There are seven reports of dystonia secondary to buspirone in the literature. But, the present case of buspirone-induced dystonia is the first reported in a previously healthy patient. Clinicians should monitor motor symptoms when increased doses of buspirone are needed. In buspirone-induced dystonia, buspirone withdrawal and anticholinergic medications should be attempted.

Abstract This case report details the clinical presentation, diagnosis, management and prognosis of paroxysmal dyskinesia (PD) in four small‐breed dogs, each weighing under 6 kg: A 7‐year‐old spayed female Pomeranian, an 8‐year‐old female mixed breed, a 1‐year‐old female Pomeranian and a 9‐year‐old castrated male Poodle. These dogs were referred to our hospital due to movement disorders. Diagnosis was facilitated by video recordings of the episodes, assessing motor activity, consciousness, episode duration, any pre‐ or post‐episodic behaviour as well as the presence of autonomic signs. Magnetic resonance imaging conducted on two of the dogs returned unremarkable results. Treatment trials included a gluten‐free diet for all four dogs, with two also receiving acetazolamide. This intervention led to a decrease in the frequency of abnormal movement in all patients. Our findings suggest that PD in dogs can be effectively diagnosed through detailed symptom description using videos and questionnaires. Furthermore, once diagnosed, a combination of nutritional and medical management can be beneficial.

The article explores aperiodic brain activity in children and young adults with dystonia who have undergone deep brain stimulation (DBS) treatment. The study found that aperiodic activity decreased following DBS implantation, indicating a shift towards greater excitation compared to inhibition. This research suggests that analyzing aperiodic activity alongside periodic activity may provide valuable insights into the neuromodulatory effects of DBS and the neurophysiology of dystonia in young patients. Further studies are needed to confirm these findings and explore the impact of aperiodic activity during different states in individuals with dystonia. [Extracted from the article]

A study published in Movement Disorders Clinical Practice discusses a case of adult-onset parkinsonism as a late manifestation of HIVEP2-associated developmental disorder. The patient, a 57-year-old male, presented with gait disturbances, balance difficulties, and tremor of the lower limbs. Genetic investigation revealed a loss-of-function variant in the HIVEP2 gene, which has been linked to intellectual developmental disorder. The study suggests that neurodevelopmental genes may play a role in late-onset movement disorders and highlights the importance of genetic testing and long-term outcomes assessment in individuals with neurodevelopmental disorders. [Extracted from the article]

Abstract Introduction Postural balance impairment can affect the quality of life of patients with Parkinson’s disease. Previous studies have described connections of the vestibular system with postural functions, suggesting a potential participation of the basal ganglia in receiving vestibular stimuli. This systematic review aims to summarize the evidence on the effectiveness of vestibular rehabilitation on postural balance in patients with Parkinson’s disease. Methods A systematic review was conducted using the electronic databases: PubMed, Embase, Scopus and PEDro. The study selection was independently conducted by two reviewers, and disagreements were evaluated by a third reviewer. The included studies had no restrictions on publication dates or languages and the last update occurred in July 2023. Results From the 485 studies found in the searches, only 3 studies were deemed eligible for the systematic review involving a total of 130 participants. The Berg Balance Scale was described as the tool for evaluation of postural balance in all studies. The meta-analysis showed statistically significant results in favor of vestibular rehabilitation (MD = 5.35; 95% CI = 2.39, 8.31; P

Introduction: Postural balance impairment can affect the quality of life of patients with Parkinson's disease. Previous studies have described connections of the vestibular system with postural functions, suggesting a potential participation of the basal ganglia in receiving vestibular stimuli. This systematic review aims to summarize the evidence on the effectiveness of vestibular rehabilitation on postural balance in patients with Parkinson's disease. Methods: A systematic review was conducted using the electronic databases: PubMed, Embase, Scopus and PEDro. The study selection was independently conducted by two reviewers, and disagreements were evaluated by a third reviewer. The included studies had no restrictions on publication dates or languages and the last update occurred in July 2023. Results: From the 485 studies found in the searches, only 3 studies were deemed eligible for the systematic review involving a total of 130 participants. The Berg Balance Scale was described as the tool for evaluation of postural balance in all studies. The meta-analysis showed statistically significant results in favor of vestibular rehabilitation (MD = 5.35; 95% CI = 2.39, 8.31; P < 0.001), regardless of the stage of Parkinson's disease. Although the effect size was suggested as a useful functional gain, the analysis was done with caution, as it only included 3 randomized controlled trials. The risk of bias using the RoB-2 was considered as being of "some concern" in all studies. Furthermore, the quality of the evidence based on the Grading of Recommendations Assessment Development and Evaluation system, produced by pooling the included studies was considered very low. Conclusion: Compared to other interventions, vestibular rehabilitation has potential to assist the postural balance of patients with Parkinson's disease. However, the very low quality of the evidence demonstrates uncertainty about the impact of this clinical practice. More robust studies are needed to confirm the benefits of this therapy in patients with Parkinson's disease. This study was prospectively registered in PROSPERO: CRD42020210185. [ABSTRACT FROM AUTHOR]

The brachial plexus injury (BPI) is one of the most severe types of peripheral nerve injuries, often caused by upper limb traction injury. In clinic, the surgery is widely used to treat the BPI. However, surgery may need to be performed multiple times at different stages, which carries risks and brings heavy economic burden. In non-surgical treatment, splinting, local injection of corticosteroids, and oral corticosteroids can achieve significant short-term benefits, but they are prone to recurrence and may cause complications of mechanical or chemical nerve damage. In this report, we present a case of a 46-year-old female patient with BPI. The patient had difficulty in raising, flexing and extending of the left upper limb, and accompanied with the soreness and pain of neck and shoulder. After 3 months of EA treatment, a significant reduction in the inner diameter of the left C5 to C7 root at the outlet of brachial plexus nerve was detected by musculoskeletal ultrasound, and the soreness and pain in the left neck and shoulder were significantly reduced. The soreness and pain in the left neck and shoulder did not recur for 2 years. Case summary: The patient is a 46-year-old female with BPI. She experienced difficult in lifting, flexing and extending of the left upper limb, which accompanied by soreness and pain in the left neck and shoulder. After 3 months of EA treatment, the patient's pain and limb's movement disorder was improved. After 2 years of follow-up, the patient's left neck and shoulder showed no further pain. Conclusion: EA has shown satisfied efficacy in BPI, improving limb restrictions and relieving pain in patients for at least 2 years. [ABSTRACT FROM AUTHOR]

Background: To determine the level of knowledge and challenges associated with learning movement disorders among final-year medical students. Methodology: A cross-sectional survey of 79 final-year medical students at the Madonna University, Elele, Rivers State. Consenting students filled out the study questionnaire, which consisted of socio-demographic variables and questions on the knowledge and challenges of learning movement disorders. Data were collected and analysed using the Statistical Package for Social Sciences Version 20. Results: The mean age of the study participants was 27.41±2.78 years, with a male-to-female ratio of 1.3:1. Almost (91.1%) all the study participants had heard about parkinsonism from their lectures, followed by chorea (88.6%). More than half of the participants knew about one type of movement disorder or the other. Forty-three (54.4%) students expressed difficulty understanding movement disorder lectures. Inadequate exposure to patients with movement disorders and lack of audiovisual aids to enhance learning experience were the greatest challenges in learning movement disorders. Conclusion: Parkinsonism was the most recognized movement disorder among the study participants. More than half of the participants admitted to having challenges with movement disorder lectures. Paucity of movement disorders cases during clinical rotation and lack of teaching aids were cited as major challenges affecting learning and appreciation of movement disorder lectures. Medical educators are encouraged to deploy appropriate methods that optimize learning experience among medical students during movement disorder lectures. [ABSTRACT FROM AUTHOR]

A survey was completed by 183 clinicians at a pediatric hospital to investigate knowledge, confidence, and practice patterns defining, identifying, and quantifying dystonia in children. The definition of dystonia was correctly identified by 86% of participants. While 88% reported identifying dystonia, only 42% of physicians and therapists reported quantifying dystonia. A weak, significant correlation, rs =.339, p ≤.001, was found between years of pediatric experience and confidence identifying dystonia. Clinician reported higher confidence levels identifying and quantifying dystonia if they perform a neurological exam. Clinical training initiatives are needed to improve standardization and build confidence in defining, identifying, and quantifying dystonia. [ABSTRACT FROM AUTHOR]

The concept of sleep bruxism (SB) has evolved exponentially over the past several decades. Many theories and hypotheses have been proposed as to the definition, pathophysiology, and management of SB, from the early 1960s through the present. The role of peripheral factors, such as dental occlusion, in the pathogenesis of SB has been discarded. The authors searched several electronic databases (ie, PubMed, Google Scholar, Web of Science, Embase, and Ovid MEDLINE) for studies on bruxism. The search was conducted from January 1961 through May 2023 and yielded 4,612 articles, of which 312 were selected for comprehensive review after eliminating duplicates and nonfocused articles. There has been an evident progressive shift from the role of peripheral factors, such as dental occlusion, to more central factors, such as the involvement of a central pattern generator as well as the autonomic nervous system, in the genesis of bruxing movements. There is continued robust interest in the dental community to elucidate the contributing factors involved in SB. The neurophysiology of SB appears to be leaning more toward central rather than peripheral factors. There is increasing evidence of the role of the autonomic nervous system, genetics, and comorbidities in the genesis of SB. The scientific literature seems to refute the role of dental occlusion in the causation of bruxing movements. As per the literature, there has been a paradigm shift in the definition and genesis of SB and its possible dental implications and management, which also highlights the need for succinct scientific studies in this regard. [ABSTRACT FROM AUTHOR]

Glucose transporter type 1 deficiency syndrome (GLUT-1DS) is characterized by alterations in glucose translocation through the blood–brain barrier (BBB) due to mutation involving the GLUT-1 transporter. The fundamental therapy is ketogenic diet (KD) that provide an alternative energetic substrate — ketone bodies that across the BBB via MCT-1 — for the brain. Symptoms are various and include intractable seizure, acquired microcephalia, abnormal ocular movement, movement disorder, and neurodevelopment delay secondary to an energetic crisis for persistent neuroglycopenia. KD is extremely effective in controlling epileptic seizures and has a positive impact on movement disorders and cognitive impairment. Cases of KD resistance are rare, and only a few of them are reported in the literature, all regarding seizure. Our study describes a peculiar case of GLUT-1DS due to a new deletion involving the first codon of SLC2A1 gene determining a loss of function with a resistance to KD admitted to hospital due to intractable episodes of dystonia. This patient presented a worsening of symptomatology at higher ketonemia values but without hyperketosis and showed a complete resolution of symptomatology while maintaining low ketonemia values. Our study proposes an in-silico genomic and proteomic analysis aimed at explaining the atypical response to KD exhibited by our patient. In this way, we propose a new clinical and research approach based on precision medicine and molecular modelling to be applied to patients with GLUT-1DS resistant to first-line treatment with ketogenic diet by in silico study of genetic and altered protein product. [ABSTRACT FROM AUTHOR]

Belly dancer's dyskinesia (BDD) is characterized by involuntary abdominal wall movements that are rhythmic, repetitive, and dyskinetic. The present study aims to review BDD's etiology, pathophysiology, and management. We searched six databases to locate existing reports on BDD published from 1990 to October 2023 in electronic form. A total of 47 articles containing 59 cases were found. The majority of the patients affected by BDD were female, accounting for 61.01% (36/59) of the cases. The mean and median ages were 49.8 (standard deviation: 21.85) and 52 years (range: 7-85), respectively. The BDD was unilateral in only 3.38% (2/59). The most commonly reported causes associated with BDD were 17 idiopathic, 11 drug-induced, 11 postsurgical procedures, 5 pregnancies, and 4 Vitamin B12 deficiencies. BDD is a diagnosis of exclusion, and other more common pathologies with similar presentation should be ruled out initially. Differential diagnostic reasoning should include diaphragmatic myoclonus, cardiac conditions, truncal dystonia, abdominal motor seizures, propriospinal myoclonus, and functional or psychiatric disorders. [ABSTRACT FROM AUTHOR]

Neurodegenerative diseases refer to a battery of medical conditions that affect the survival and function of neurons in the brain, which are mainly presented with progressive loss of cognitive and/or motor function. Acupuncture showed benign effects in improving neurological deficits, especially on movement and cognitive function impairment. Here, we reviewed the therapeutic mechanisms of acupuncture at the neural circuit level in movement and cognition disorders, summarizing the influence of acupuncture in the dopaminergic system, glutamatergic system, γ-amino butyric acid-ergic (GABAergic) system, serotonergic system, cholinergic system, and glial cells at the circuit and synaptic levels. These findings can provide targets for clinical treatment and perspectives for further studies. [ABSTRACT FROM AUTHOR]

Background: Muscle cramps are typically regarded as benign muscle overactivity in healthy individuals, whereas spasms are linked to spasticity resulting from central motor lesions. However, their striking similarities made us hypothesize that cramping is an under-recognized and potentially misidentified aspect of spasticity. Methods: A systematic search on spasms and cramps in patients with Upper Motor Neuron Disorder (spinal cord injury, cerebral palsy, traumatic brain injury, and stroke) was carried out in Embase/Medline, aiming to describe the definitions, characteristics, and measures of spasms and cramps that are used in the scientific literature. Results: The search identified 4,202 studies, of which 253 were reviewed: 217 studies documented only muscle spasms, 7 studies reported only cramps, and 29 encompassed both. Most studies (n = 216) lacked explicit definitions for either term. One-half omitted any description and when present, the clinical resemblance was significant. Various methods quantified cramp/spasm frequency, with self-reports being the most common approach. Conclusion: Muscle cramps and spasms probably represent related symptoms with a shared pathophysiological component. When considering future treatment strategies, it is important to recognize that part of the patient's spasms may be attributed to cramps. [ABSTRACT FROM AUTHOR]

Sunflower syndrome is a rare photosensitive pediatric epilepsy characterized by stereotyped hand-waving in response to bright lights. These stereotyped movements with maintained awareness can be mistaken for a movement disorder. This study assessed neurology providers' diagnostic reasoning, evaluation, and treatment of Sunflower syndrome. A 32-question anonymized electronic survey, including a clinical vignette and video of hand-waving in sunlight, was distributed to child neurology providers to assess (1) initial diagnosis and evaluation based on clinical information, (2) updated diagnosis and management after electroencephalography (EEG), and (3) prior experience with Sunflower syndrome. Among 277 viewed surveys, 211 respondents provided information about initial diagnosis and evaluation, 200 about updated diagnosis, 191 about management, and 189 about prior clinical experience. Most providers (135, 64%) suspected seizure, whereas fewer suspected movement disorders (29, 14%) or were unsure of the diagnosis (37, 22%). EEG was recommended by 180 (85%). After EEG, 189 (95%) diagnosed epilepsy, 111 of whom specifically diagnosed Sunflower syndrome. The majority (149, 78%) recommended antiseizure medications (ASMs) and sun avoidance (181, 95%). Only 103 (55%) had managed Sunflower syndrome. Epileptologists and those with prior clinical experience were more likely to suspect a seizure, order an EEG, and offer ASMs than those without prior experience. Although many providers had not managed Sunflower syndrome, the majority recognized this presentation as concerning for epilepsy. Epilepsy training and prior clinical experience are associated with improved recognition and appropriate treatment. Educational initiatives that increase awareness of Sunflower syndrome may improve patient care. [ABSTRACT FROM AUTHOR]