No abstract available.

No abstract available.
Chorea* ; Humans ; Moyamoya Disease*

OBJECTIVE: To evaluate changes in the strength and mechanical properties of neck muscles and disability in patients with cervical dystonia (CD) during a 12-week period following botulinum neurotoxin (BoNT) injections. METHODS: Eight patients with CD volunteered for this prospective clinical cohort study. Patients had received BoNT injections regularly in neck muscles at three-month intervals for several years. Maximal isometric neck strength was measured by a dynamometer, and the mechanical properties of the splenius capitis were evaluated using two myotonometers. Clinical assessment was performed using the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) before and at 2, 4, 8, and 12 weeks after the BoNT injections. RESULTS: Mean maximal isometric neck strength at two weeks after the BoNT injections decreased by 28% in extension, 25% in rotation of the affected side and 17% in flexion. At four weeks, muscle stiffness of the affected side decreased by 17% and tension decreased by 6%. At eight weeks, the muscle elasticity on the affected side increased by 12%. At two weeks after the BoNT injections, the TWSTRS-severity and TWSTRS-total scores decreased by 4.3 and 6.4, respectively. The strength, muscle mechanical properties and TWSTRS scores returned to baseline values at 12 weeks. CONCLUSIONS: Although maximal neck strength and muscle tone decreased after BoNT injections, the disability improved. The changes observed after BoNT injections were temporary and returned to pre-injection levels within twelve weeks. Despite having a possible negative effect on function and decreasing neck strength, the BoNT injections improved the patients reported disability.
Cohort Studies ; Elasticity ; Humans ; Muscle Strength ; Neck Muscles* ; Neck* ; Paraspinal Muscles ; Prospective Studies* ; Torticollis*

OBJECTIVE: Galvanic vestibular stimulation (GVS) activates the vestibular afferents, and these changes in vestibular input exert a strong influence on the subject's posture or standing balance. In patients with Parkinson's disease (PD), vestibular dysfunction might contribute to postural instability and gait disorders. METHODS: Current intensity was increased to 0.7 mA, and the current was applied to the patients for 20 minutes. To perform a sham stimulation, the current intensity was increased as described and then decreased to 0 mA over the course of 10 seconds. The patient's status was recorded continuously for 20 minutes with the patient in the supine position. RESULTS: Three out of 5 patients diagnosed with PD with postural instability and/or abnormal axial posture showed a reduction in postural instability after GVS. The score for item 12 of the revised Unified Parkinson's Disease Rating Scale part 3 was decreased in these patients. CONCLUSIONS: The mechanism of postural instability is complex and not completely understood. In 2 out of the 5 patients, postural instability was not changed in response to GVS. Nonetheless, the GVS-induced change in postural instability for 3 patients in our study suggests that GVS might be a therapeutic option for postural instability.
Gait ; Humans ; Parkinson Disease* ; Posture ; Supine Position

OBJECTIVE: The aim of this study was to investigate frontal N30 status in Parkinson's disease (PD) and to examine the correlation between the amplitude of frontal N30 and the severity of motor deficits. METHODS: The frontal N30 was compared between 17 PD patients and 18 healthy volunteers. Correlations between the amplitude of frontal N30 and the Unified Parkinson's Disease Rating Scale (UPDRS) motor score of the more severely affected side was examined. RESULTS: The mean latency of the N30 was not significantly different between patients and healthy volunteers (p = 0.981), but the mean amplitude was lower in PD patients (p < 0.025). There was a significant negative correlation between the amplitude of N30 and the UPDRS motor score (r = -0.715, p = 0.013). CONCLUSIONS: The frontal N30 status indicates the motor severity of PD. It can be a useful biomarker reflecting dopaminergic deficits and an objective measurement for monitoring the clinical severity of PD.
Evoked Potentials ; Evoked Potentials, Somatosensory* ; Healthy Volunteers ; Humans ; Parkinson Disease*

OBJECTIVE: Parkinsonism and other movement disorders have previously been reported in the acquired hepatocerebral degeneration associated with portosystemic shunting. However, there is no study to date about their prevalence as has been noted in general practice. METHODS: One hundred and forty-three patients with hepatic cirrhosis from the gastroenterology clinic and internal medicine wards were enrolled. Liver data included the diagnoses, etiologies, assessments of complications, and treatments for cirrhosis. Hepatic encephalopathy was classified with regard to the West Haven criteria for semi-quantitative grading for mental status. Neurological examination results and abnormal involuntary movements were recorded as primary outcomes. Neuro-radiology was used for the detection of severe brain lesions. RESULTS: Alcoholism was the most common cause of liver cirrhosis. Eighty-three patients (58%) presented with movement disorders. Asterixis was found in one of the cases. The most common movement disorder seen was an intentional tremor at 37.1%, which was followed by bradykinesia, Parkinsonism, and postural tremors at 29.4%, 10.5%, and 6.3%, respectively. The prevalence of movement disorders simultaneously increased with a high Child-Turcotte-Pugh score. The hepatic encephalopathy was grade 1 and 2. With the inclusion of age-range adjustments, we found that alcoholic cirrhosis and hepatic encephalopathy are statistically significant factors [p < 0.05, odds ratio (OR) = 6.41, 95% confidence interval (CI) 1.38-29.71 and p < 0.001, OR = 13.65, 95% CI 4.71-39.54] for the development of movement disorders in non-Wilsonian cirrhotic patients. CONCLUSIONS: Intentional tremor is a common abnormal movement. Alcoholic cirrhosis and hepatic encephalopathy are significant risk factors in the development of movement disorders in non-Wilsonian cirrhotic patients.
Alcoholism ; Brain ; Diagnosis ; Dyskinesias ; Fibrosis ; Gastroenterology ; General Practice ; Hepatic Encephalopathy ; Hepatolenticular Degeneration ; Humans ; Hypokinesia ; Internal Medicine ; Liver ; Liver Cirrhosis ; Liver Cirrhosis, Alcoholic ; Movement Disorders* ; Neurologic Examination ; Odds Ratio ; Parkinsonian Disorders ; Portasystemic Shunt, Surgical ; Prevalence* ; Risk Factors* ; Schools, Medical* ; Tremor

OBJECTIVE: Neurodegeneration with brain iron accumulation (NBIA) represents a group of inherited movement disorders characterized by iron accumulation in the basal ganglia. Recent advances have included the identification of new causative genes and highlighted the wide phenotypic variation between and within the specific NBIA subtypes. This study aimed to investigate the current status of NBIA in Korea. METHODS: We collected genetically confirmed NBIA patients from twelve nationwide referral hospitals and from a review of the literature. We conducted a study to describe the phenotypic and genotypic characteristics of Korean adults with atypical pantothenate kinase-associated neurodegeneration (PKAN). RESULTS: Four subtypes of NBIA including PKAN (n = 30), PLA2G6-related neurodegeneration (n = 2), beta-propeller protein-associated neurodegeneration (n = 1), and aceruloplasminemia (n = 1) have been identified in the Korean population. The clinical features of fifteen adults with atypical PKAN included early focal limb dystonia, parkinsonism-predominant feature, oromandibular dystonia, and isolated freezing of gait (FOG). Patients with a higher age of onset tended to present with parkinsonism and FOG. The p.R440P and p.D378G mutations are two major mutations that represent approximately 50% of the mutated alleles. Although there were no specific genotype-phenotype correlations, most patients carrying the p.D378G mutation had a late-onset, atypical form of PKAN. CONCLUSIONS: We found considerable phenotypic heterogeneity in Korean adults with atypical PKAN. The age of onset may influence the presentation of extrapyramidal symptoms.
Adult ; Age of Onset ; Alleles ; Basal Ganglia ; Brain ; Dystonia ; Freezing ; Gait ; Gene Frequency ; Genetic Association Studies ; Humans ; Iron ; Korea ; Movement Disorders ; Neurodegenerative Diseases ; Pantothenate Kinase-Associated Neurodegeneration* ; Parkinsonian Disorders ; Phenotype ; Population Characteristics* ; Referral and Consultation ; Weather

Immunization therapy targeting α-synuclein has emerged as a promising approach for Parkinson's disease and perhaps for other synucleinopathies. Several antibodies have shown therapeutic effects in mouse models of synucleinopathies and have alleviated the pathological and behavioral phenotypes of these mice. The mechanisms through which the immunization therapy works were initially puzzling, especially given that α-synuclein is a typical cytosolic protein. Recent studies, however, suggested that extracellular α-synuclein is an important pathogenic entity, and hence, a target for immunotherapy. Here, we review the literature describing immunization therapy for synucleinopathies in mouse models and provide current thoughts on the potential mechanisms underlying the therapeutic effects of α-synuclein immunotherapy.
Animals ; Antibodies ; Cytosol ; Immunization ; Immunotherapy* ; Mice ; Parkinson Disease ; Phenotype ; Therapeutic Uses

Sixty years ago, Steele, Richardson and Olszewski designated progressive supranuclear palsy (PSP) as a new clinicopathological entity in their seminal paper. Since then, in addition to the classic Richardson's syndrome (RS), different clinical phenotypic presentations have been linked with this four-repeat tauopathy. The clinical heterogeneity is associated with variability of regional distribution and severity of abnormal tau accumulation and neuronal loss. In PSP subtypes, the presence of certain clinical pointers may be useful for antemortem prediction of the underlying PSP-tau pathology. Midbrain atrophy on conventional MRI correlates with the clinical phenotype of RS but is not predictive of PSP pathology. Cerebrospinal fluid biomarkers and tau ligand positron emission tomography are promising biomarkers of PSP. A multidisciplinary approach to meet the patients' complex needs is the current core treatment strategy for this devastating disorder.
Atrophy ; Biomarkers ; Cerebrospinal Fluid ; Magnetic Resonance Imaging ; Mesencephalon ; Neurons ; Pathology ; Phenotype ; Population Characteristics ; Positron-Emission Tomography ; Steel ; Supranuclear Palsy, Progressive* ; Tauopathies

No abstract available.
Movement Disorders* ; Religious Missions*