Glucocerebrosidase (GBA1) variants constitute numerically the most common known genetic risk factor for Parkinson's disease (PD) and are distributed worldwide. Access to GBA1 genotyping varies across the world and even regionally within countries. Guidelines for GBA1 variant counseling are evolving. We review the current knowledge of the link between GBA1 and PD, and discuss the practicalities of GBA1

BackgroundDystonia presents a growing concern based on evolving prevalence insights. Previous research found that, in cervical dystonia, high‐frequency repetitive somatosensory stimulation (RSS; HF‐RSS) applied on digital nerves paradoxically diminishes sensorimotor inhibitory mechanisms, whereas low‐frequency RSS (LF‐RSS) increases them. However, direct testing on affected body parts was not conducted

BackgroundFriedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by an expanded GAA repeat in the first intron of the FXN gene.ObjectiveThe aim of this study was to analyze leukocyte telomeres length (LTL) in FRDA to verify the possible relationships between LTL and disease progression. We investigated LTL in a cohort of FRDA biallelic patients (n = 61), heterozygous (n

In recent years, many neuroimaging studies have applied artificial intelligence (AI) to facilitate existing challenges in Parkinson's disease (PD) diagnosis, prognosis, and intervention. The aim of this systematic review was to provide an overview of neuroimaging-based AI studies and to assess their methodological quality. A PubMed search yielded 810 studies, of which 244 that investigated the utility

BackgroundPrimary familial brain calcification (PFBC) is a monogenic disorder characterized by bilateral calcifications in the brain. The genetic basis remains unknown in over half of the PFBC patients, indicating the existence of additional novel causative genes. NAA60 was a recently reported novel causative gene for PFBC.ObjectiveThe aim was to identify the probable novel causative gene in an autosomal

BackgroundThe cardinal motor symptoms of Parkinson's disease (PD) include rigidity, bradykinesia, and rest tremor. Rigidity and bradykinesia correlate with contralateral nigrostriatal degeneration and striatal dopamine deficit, but association between striatal dopamine function and rest tremor has remained unclear.ObjectiveThe aim of this study was to investigate the possible link between dopamine

BACKGROUND Childhood neurodegenerative diseases often pose a challenge to clinicians to diagnose because of the degree of genetic heterogeneity and variable presentations. Here, we present a child with progressive neurodegeneration consisting of spasticity, dystonia, and ataxia in which postmortem pathological analysis led to the diagnosis of interferon regulatory factor 2 binding protein like (IRF2BPL)-related

Previous reviews on the cost of illness (COI) of Parkinson's disease (PD) have often focused on health‐care costs due to PD, underestimating its effects on other sectors. This systematic review determines the COI of PD from a societal perspective. The protocol was registered in PROSPERO (ID: CRD42023428937). Embase, Medline, and EconLit were searched up to October 12, 2023, for studies determining

BackgroundGlucocerebrosidase 1 (GBA1) mutations are associated with reduced survival in Parkinson's disease but their effect on survival in dementia with Lewy bodies (DLB) is unclear.ObjectiveTo assess the impact of GBA1 mutations on survival among Ashkenazi Jews with DLB, while controlling for APOE status.MethodsOne hundred and forty participants from Tel Aviv Medical Center, Israel were genotyped

BackgroundProgressive supranuclear palsy (PSP) is a neurodegenerative, late‐onset disease that is challenging in terms of assessment. The Progressive Supranuclear Palsy Rating Scale (PSPRS), a 28‐item clinician‐reported scale, is the most established clinical outcome assessment method. Recently, the U.S. Food and Drug Administration (FDA) has proposed a subscale of 10 items as an alternative to full

BackgroundEmerging research implicates tau protein dysregulation in the pathophysiology of Huntington's disease.ObjectiveThis study investigated skin tau quantification as a potential biomarker for Huntington's disease and its correlation with disease burden outcomes.MethodsIn this cross‐sectional study, we measured skin tau levels using enzyme‐linked immunosorbent assay in 23 Huntington's disease

BackgroundParkinson's disease (PD) has been consistently linked to alterations within the gut microbiome.ObjectiveOur goal was to identify microbial features associated with PD incidence and progression.MethodsMetagenomic sequencing was used to characterize taxonomic and functional changes to the PD microbiome and to explore their relation to bacterial metabolites and disease progression. Motor and

BackgroundPrevious studies have suggested that glucagon‐like peptide‐1 receptor agonists (GLP‐1RAs) may have a disease‐modifying effect in the development of Parkinson's disease (PD), but population studies yielded inconsistent results.ObjectiveThe aim was to compare the risk of PD associated with GLP‐1RAs compared to dipeptidyl peptidase 4 inhibitors (DPP4i) among older adults with type 2 diabetes

BackgroundAutomated sleep detection in movement disorders may allow monitoring sleep, potentially guiding adaptive deep brain stimulation (DBS).ObjectivesThe aims were to compare wake‐versus‐sleep status (WSS) local field potentials (LFP) in a home environment and develop biomarkers of WSS in Parkinson's disease (PD), essential tremor (ET), and Tourette's syndrome (TS) patients.MethodsFive PD, 2 ET

BackgroundNeuroaxonal dystrophy (NAD) is a group of inherited neurodegenerative disorders characterized primarily by the presence of spheroids (swollen axons) throughout the central nervous system. In humans, NAD is heterogeneous, both clinically and genetically. NAD has also been described to naturally occur in large animal models, such as dogs. A newly recognized disorder in Miniature American Shepherd

BackgroundThere are more than 30 immunoglobulin G (IgG) autoantibody biomarkers of autoimmune cerebellar ataxia reported.ObjectiveTo describe a novel IgG biomarker targeting neurobeachin, a scaffolding protein integral to synapse formation and function.MethodsClinical and laboratory‐based assessment was used for a novel diagnostic biomarker of autoimmune ataxia.ResultsA 46‐year‐old woman had ataxia

BackgroundProgressive supranuclear palsy (PSP) is largely a sporadic disease with few reported familial cases. Genome‐wide association studies (GWAS) in sporadic PSP in Caucasian populations have identified MAPT as the most commonly associated genetic risk locus with the strongest effect size. At present there are limited data on genetic factors associated with PSP in Asian populations.ObjectivesOur

Social cognition (SC) encompasses a set of cognitive functions that enable individuals to understand and respond appropriately to social interactions. Although focused ultrasound subthalamotomy (FUS‐STN) effectively treats Parkinson's disease (PD) clinical motor features, its impact and safety on cognitive‐behavioral interactions/interpersonal awareness are unknown. This study investigated the effects

BackgroundDementia with Lewy bodies (DLB) is characterized by a marked shift of electroencephalographic (EEG) power and dominant rhythm, from the α toward the θ frequency range. Transcranial alternate current stimulation (tACS) is a non‐invasive brain stimulation technique that allows entrainment of cerebral oscillations at desired frequencies.ObjectivesOur goal is to evaluate the effects of occipital

BackgroundInvasive deep brain stimulation (DBS) has been shown to be effective in treating patients with Parkinson's disease (PD), yet its clinical use is limited to patients at the advanced stage of the disease. Transcranial temporal interference stimulation (tTIS) may be a novel nonneurosurgical and safer alternative, yet its therapeutic potential remains unexplored.ObjectiveThis pilot study aims

BackgroundThere remains high variability in clinical outcomes when the same magnetic resonance image‐guided focused ultrasound (MRgFUS) thalamotomy target is used for both essential tremor (ET) and tremor‐dominant Parkinson's disease (TDPD).ObjectiveOur goal is to refine the MRgFUS thalamotomy target for TDPD versus ET.MethodsWe retrospectively performed voxel‐wise efficacy and structural connectivity

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

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

BackgroundEssential tremor (ET) is a common debilitating condition, yet current treatments often fail to provide satisfactory relief. Transcutaneous spinal cord electrical stimulation (tSCS) has emerged as a potential noninvasive neuromodulation technique capable of disrupting the oscillatory activity underlying tremors.ObjectiveThis study aimed to investigate the potential of tSCS to disrupt tremor

BackgroundClinical trial scenarios can be modeled using data from observational studies, providing critical information for design of real‐world trials. The Huntington's Disease Integrated Staging System (HD‐ISS) characterizes disease progression over an individual's lifespan and allows for flexibility in the design of trials with the goal of delaying progression. Enrichment methods can be applied

BackgroundPain is a frequent yet poorly characterized symptom of multiple system atrophy (MSA). Understanding the factors influencing pain and its burden is crucial for improving the symptomatic treatment and quality of life of MSA individuals.ObjectiveThis study aimed at assessing the prevalence, characteristics, and current treatment strategies for pain in MSA.MethodsA community‐based, online survey

BackgroundPatient‐rated motor symptoms (PRMS) and clinician‐rated motor symptoms (CRMS) often differ in Parkinson's disease (PD).ObjectiveOur goal was to investigate the determinants and clinical implications of PRMS compared with CRMS in PD.MethodsThis retrospective, observational cohort study analyzed the cross‐sectional associations and longitudinal impacts of PRMS as assessed by the Movement Disorders

BACKGROUND Until recently, about three-quarters of all monogenic Parkinson's disease (PD) studies were performed in European/White ancestry, thereby severely limiting our insights into genotype-phenotype relationships at a global scale. OBJECTIVE To identify the multi-ancestry spectrum of monogenic PD. METHODS The first systematic approach to embrace monogenic PD worldwide, The Michael J. Fox Foundation

Despite the availability of a number of efficacious treatments for Parkinson's disease, their limitations and drawbacks, particularly related to low brain bioavailability and associated side effects, emphasize the need for alternative and more effective therapeutic approaches. Nanomedicine, the application of nanotechnology in medicine, has received considerable interest in recent years as a method

BackgroundMusicians' dystonia (MD) is a movement disorder with several established risk factors, but the exact pathophysiology remains unknown. Recent research suggests dysfunction in sensory‐motor, basal ganglia, cerebellar, and limbic loops as potential causes. Adverse childhood experiences are also considered risk factors.ObjectiveThis study aimed to investigate whether MD patients have experienced

BACKGROUND Clinical trials for upcoming disease-modifying therapies of spinocerebellar ataxias (SCA), a group of rare movement disorders, lack endpoints sensitive to early disease progression, when therapeutics will be most effective. In addition, regulatory agencies emphasize the importance of biological outcomes. OBJECTIVES READISCA, a transatlantic clinical trial readiness consortium, investigated

ObjectiveThe Progressive Supranuclear Palsy quality of life scale (PSP‐QoL) has been shown to be a useful tool for capturing health‐related quality of life of patients in “everyday life” and in progressive supranuclear palsy (PSP) research. However, at 45 items in length, the questionnaire can take a long time, exhausting PSP patients, in particular if cognitive impaired, which can have a negative

BACKGROUND Parkinson's disease (PD) is the second most common neurodegenerative disease following Alzheimer's disease. Nearly 30 causative genes have been identified for PD and related disorders. However, most of these genes were identified in European-derived families, and little is known about their role in Latin American populations. OBJECTIVES Our goal was to assess the spectrum and frequency of

BackgroundRecent imaging studies identified a brain network associated with clinical improvement following deep brain stimulation (DBS) in Parkinson's disease (PD), the PD response network.ObjectivesThis study aimed to assess the impact of neuromodulation on PD motor symptoms by targeting this network noninvasively using multifocal transcranial direct current stimulation (tDCS).MethodsIn a prospective

BackgroundElevated levels of prokineticin‐2 (PK2), regarded as a protein involved in modulating immune/inflammatory responses, have been detected in the substantia nigra, serum, and olfactory neurons of Parkinson's disease (PD) patients. Of note, emerging evidence suggests that gut alterations, including dysbiosis and enteric inflammation, play a role in PD via the gut‐brain axis.ObjectivesOur goal

BackgroundA 19‐year‐old female patient presented at 2 years of age with dysarthria, incoherent speech, and unsteady ambulation. She is prone to leaning backward when walking and has involuntary movements of the whole body. Besides, she has poor numeracy skills. She has been diagnosed with Wilson's disease (WD) in China and Japan.ObjectiveThe objective of this study was to further clarify the diagnosis

BackgroundLatin America has played a crucial role in advancing our understanding of Huntington's disease (HD). However, previous global reviews include limited data from Latin America. It is possible that English‐based medical search engines may not capture all the relevant studies.MethodsWe searched databases in Spanish, Portuguese, and English. The names of every country in Latin America in English‐based

Estimates of the risk of dementia in Parkinson's disease (PDD) vary widely. We aimed to review the incidence of PDD and in a meta‐analysis estimate the pooled annual incidence and relative risk of PDD while also exploring factors that may contribute to heterogeneity between studies. Preferred Reporting Items for Systematic reviews and Meta‐Analyses guidelines were followed and MEDLINE and EMBASE were