BackgroundDeep brain stimulation is a treatment for advanced Parkinson's disease and currently tuned to target motor symptoms during daytime. Parkinson's disease is associated with multiple nocturnal symptoms such as akinesia, insomnia, and sleep fragmentation, which may require adjustments of stimulation during sleep for best treatment outcome.ObjectivesThere is a need for a robust biomarker to guide

BACKGROUND Dementia with Lewy bodies (DLB) commonly exhibits a complex neuropathology, sharing characteristics with Alzheimer's disease (AD), including tau aggregates. However, studies using the 18F-AV-1451 tau tracer have shown inconsistent findings regarding both the extent and topographical distribution of tau pathology in DLB. OBJECTIVES Our aim was to elucidate the topographical patterns of tau

BackgroundAlthough neuromelanin‐sensitive magnetic resonance imaging (NM‐MRI) has been used to evaluate early neurodegeneration in Parkinson's disease, studies concentrating on the locus coeruleus (LC) in pre‐dementia stages of dementia with Lewy bodies (DLB) are lacking.ObjectivesThe aims were to evaluate NM‐MRI signal changes in the LC in patients with mild cognitive impairment with Lewy bodies (MCI‐LB)

BackgroundAlterations in gut microbiota are observed in Parkinson's disease (PD). Previous studies on microbiota‐derived metabolites in PD were small‐scale and post‐diagnosis, raising concerns about reverse causality.ObjectivesOur goal was to prospectively investigate the association between plasma microbial metabolites and PD risk within a metabolomics framework.MethodsA nested case–control study

BackgroundSpinocerebellar ataxia type 3 (SCA3) is an autosomal dominant inherited neurodegenerative disorder for which there is currently no cure, nor effective treatment strategy.ObjectiveOur aim was to investigate the safety and efficacy of high‐dose ganglioside GM1 (ganglioside‐monosialic acid) pulse treatment in patients with SCA3.MethodsPatients were randomly allocated to receive either high‐dose

BackgroundThe age at onset (AAO) of Parkinson's disease (PD) varies widely among individuals and significantly influences disease progression and prognosis. However, few genome‐wide association studies (GWASs) have investigated genetic variants determining AAO, particularly in East Asian populations.ObjectivesTo identify single‐nucleotide polymorphisms (SNPs) affecting AAO of PD in Korean patients

BackgroundParkinson's disease (PD) is the second most common, and the fastest‐growing neurodegenerative disorder with unclear etiology in most cases. Therefore, the identification of non‐genetic risk factors for PD pathology is crucial to develop effective preventative or therapeutic strategies. An increasing number of evidence suggests that central insulin resistance might have an essential role in

BACKGROUND Chronic musculoskeletal pain often co-occurs with Parkinson's disease (PD); however, whether individuals with chronic pain have a higher risk of developing PD is unclear. OBJECTIVES To investigate the associations between chronic pain and incident risk of three neurodegenerative parkinsonism categories including PD, multiple system atrophy (MSA), and progressive supranuclear palsy (PSP)

BackgroundNo clinical trials have been reported on the use of focused ultrasound (FUS) for treating cervical dystonia.ObjectiveWe aimed to confirm the efficacy and safety of FUS pallidothalamic tractotomy for cervical dystonia.MethodsThis was a prospective, open‐label, non‐controlled pilot study. The primary outcome was defined as a change in the score for the Toronto Western Spasmodic Torticollis

BackgroundThe cerebellar cognitive affective syndrome (CCAS) encompasses cognitive and affective symptoms in patients with cerebellar disorders, for which no proven treatment is available.ObjectivesOur primary objective was to study the effect of cerebellar anodal transcranial direct current stimulation (tDCS) on cognitive performance in CCAS patients. Secondary effects on ataxia severity, mood, and

BackgroundHigh positivity rate of skin phosphorylated α‐synuclein (P‐SYN) was observed in Parkinson's disease (PD). Bullous pemphigoid (BP) is one of the most common autoimmune skin diseases associated with PD.ObjectivesOur aim was to investigate whether BP patients might be a targeted risk population for the screening of skin P‐SYN.MethodsSkin P‐SYN expression was evaluated by immunohistochemistry

BackgroundProgressive supranuclear palsy (PSP) is a rare and fatal neurodegenerative disorder for which there are currently no disease‐modifying treatments. Recent trials of potential therapies had durations of 12 months, which may be insufficient because of nonrandom missingness due to death. Longer durations, incorporating PSP Rating Scale and survival, can reduce the potential for type II error

BackgroundHereditary spastic paraplegia (HSP) is characterized by progressive lower limb weakness and spasticity, with unknown genetic cause in many cases.ObjectivesTo identify novel genetic causes of HSP.MethodsPhenotypic characterization, genetic screening, transcriptome sequencing, and peroneal nerve biopsy were conducted in a Chinese HSP family.ResultsWe found a homoplasmic MT‐TV (mitochondrial

Advances in genetic technologies and disease modeling have greatly accelerated the pace of introducing and validating molecular‐genetic contributors to disease. In dystonia, there is a growing convergence across multiple distinct forms of the disease onto core biological processes. Here, we discuss two of these, the endosome‐autophagosome‐lysosome pathway and the integrated stress response, to highlight

BackgroundThe p.Ser71Arg RAB32 variant was recently associated with Parkinson's disease (PD).ObjectiveThe aim was to investigate the presence of RAB32 variants in a large multiethnic group of individuals affected and unaffected by PD.MethodsWe queried our proprietary database that contains exome/genome sequencing data of >180,000 individuals. Additional PD patients were genotyped, and proximal p.Ser71Arg‐associated

BackgroundOrthostatic tremor (OT) is a rare movement disorder characterized by a feeling of unsteadiness and a high‐frequency tremor in the legs (13–18 Hz) relieved by sitting or walking.ObjectivesThe aims were to study the brain electrophysiology captured chronically in a person with medication‐refractory OT while standing and walking and in the semi‐recumbent position using bilateral ventral intermedius

BackgroundMotor and nonmotor fluctuations adversely impact the quality of life in Parkinson's disease (PD). Dysautonomia, a feature frequently associated with PD and a possible adverse effect of dopaminergic therapy, may be comorbid with fluctuations.ObjectiveWe sought to evaluate the effect of dysautonomia on motor and nonmotor fluctuations in PD.MethodsTwo hundred subjects with PD were evaluated

BackgroundIn Parkinson's disease (PD), postural instability and gait disorder (PIGD) symptoms are associated with a worse prognosis for an unknown reason.ObjectiveThe objective was to explore the relationship between cannabinoid receptor type 1 (CB1R) availability and motor symptoms in PD with [18F]FMPEP‐d2 positron emission tomography (PET).MethodsFifteen individuals with PD underwent [18F]FMPEP‐d2

BackgroundEfficacy of deep brain stimulation (DBS) relies on accurate lead placement as well as optimization of the stimulation parameters. Although clinical software tools are now available, programming still largely relies on a monopolar review, a tedious process for both patients and programmers.ObjectiveThis study investigates the safety and feasibility of prospective automated connectomic DBS

BackgroundMovement clinical neurophysiology studies can distinguish myoclonus, tremor, and other jerky movements; however, there has been limited demonstration of their real‐world clinical impact.ObjectiveThe aim was to investigate movement study utility in clarifying movement classification and guiding patient management.MethodA retrospective study of myoclonus‐related movement studies was performed

BackgroundRapid eye movement sleep behavior disorder (RBD) is linked to the diffuse‐malignant subtype and higher cognitive burden in Lewy body disease (LBD).ObjectiveThis study explores brain β‐amyloid deposition and its association with cognitive decline across the RBD–LBD continuum.MethodsPatients with isolated RBD (iRBD), Parkinson's disease with probable RBD (PDRBD), and dementia with Lewy bodies

BackgroundMore than 60% of paroxysmal kinesigenic dyskinesia (PKD) cases are of uncertain variants.ObjectiveThe aim was to elucidate novel genetic contribution to PKD.MethodsA total of 476 probands with uncertain genetic causes were enrolled for whole‐exome sequencing. A method of case–control analysis was applied to identify the candidate genes. Whole‐cell patch‐clamp recording was applied to verify

Cognitive impairment is a well‐recognized and debilitating symptom of Parkinson's disease (PD). Degradation in the cortical cholinergic system is thought to be a key contributor. Both postmortem and in vivo cholinergic positron emission tomography (PET) studies have provided valuable evidence of cholinergic system changes in PD, which are pronounced in PD dementia (PDD). A growing body of literature