Metronidazole-Induced Craniocervical Myoclonus with Reversible Bilateral Dentate Nucleus Lesions.
Journal of Movement Disorders.2017;10(1):67-68. doi:10.14802/jmd.16021
Journal of Movement Disorders
to Present ISSN: 2005-940X
Year of publication
Sort by
DISPLAY OPTIONS
Format:
Per page:
Journal of Movement Disorders.2017;10(1):64-66. doi:10.14802/jmd.16040
Camptocormia with Transient Ischemic Attack.
Journal of Movement Disorders.2017;10(1):62-63. doi:10.14802/jmd.16043
No abstract available.
Ischemic Attack, Transient*
Ischemic Attack, Transient*
Suspected Perinatal Depression Revealed to be Hereditary Diffuse Leukoencephalopathy with Spheroids.
Journal of Movement Disorders.2017;10(1):59-61. doi:10.14802/jmd.16050
Early motor symptoms of neurodegenerative diseases often appear in combination with psychiatric symptoms, such as depression or personality changes, and are in danger of being misdiagnosed as psychogenic in young patients. We present the case of a 32-year-old woman who presented with rapid-onset depression, followed by a hypokinetic movement disorder and cognitive decline during pregnancy. Genetic testing revealed a mutation in the colony-stimulating factor 1 receptor gene, which led to the diagnosis of hereditary diffuse leukoencephalopathy with spheroids. Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is probably an under-recognized disease. HDLS should be considered in patients with rapidly progressing parkinsonian symptoms and dementia accompanied by white matter lesions.
Adult ; Dementia ; Depression* ; Diagnosis ; Female ; Genetic Testing ; Humans ; Leukoencephalopathies* ; Macrophage Colony-Stimulating Factor ; Movement Disorders ; Neurodegenerative Diseases ; Parkinsonian Disorders ; Pregnancy ; White Matter
Adult ; Dementia ; Depression* ; Diagnosis ; Female ; Genetic Testing ; Humans ; Leukoencephalopathies* ; Macrophage Colony-Stimulating Factor ; Movement Disorders ; Neurodegenerative Diseases ; Parkinsonian Disorders ; Pregnancy ; White Matter
Journal of Movement Disorders.2017;10(1):53-58. doi:10.14802/jmd.16044
Familial hyperekplexia, also called startle disease, is a rare neurological disorder characterized by excessive startle responses to noise or touch. It can be associated with serious injury from frequent falls, apnea spells, and aspiration pneumonia. Familial hyperekplexia has a heterogeneous genetic background with several identified causative genes; it demonstrates both dominant and recessive inheritance in the α1 subunit of the glycine receptor (GLRA1), the β subunit of the glycine receptor and the presynaptic sodium and chloride-dependent glycine transporter 2 genes. Clonazepam is an effective medical treatment for hyperekplexia. Here, we report genetically confirmed familial hyperekplexia patients presenting early adult cautious gait. Additionally, we review clinical features, mode of inheritance, ethnicity and the types and locations of mutations of previously reported hyperekplexia cases with a GLRA1 gene mutation.
Accidental Falls ; Adult ; Apnea ; Clonazepam ; Gait* ; Genetic Background ; Glycine Plasma Membrane Transport Proteins ; Humans ; Nervous System Diseases ; Noise ; Phenotype* ; Pneumonia, Aspiration ; Receptors, Glycine ; Reflex, Startle ; Sodium ; Stiff-Person Syndrome* ; Wills
Accidental Falls ; Adult ; Apnea ; Clonazepam ; Gait* ; Genetic Background ; Glycine Plasma Membrane Transport Proteins ; Humans ; Nervous System Diseases ; Noise ; Phenotype* ; Pneumonia, Aspiration ; Receptors, Glycine ; Reflex, Startle ; Sodium ; Stiff-Person Syndrome* ; Wills
Exosome-Based Delivery of miR-124 in a Huntington's Disease Model.
Journal of Movement Disorders.2017;10(1):45-52. doi:10.14802/jmd.16054
OBJECTIVE: Huntington's disease (HD) is a genetic neurodegenerative disease that is caused by abnormal CAG expansion. Altered microRNA (miRNA) expression also causes abnormal gene regulation in this neurodegenerative disease. The delivery of abnormally downregulated miRNAs might restore normal gene regulation and have a therapeutic effect. METHODS: We developed an exosome-based delivery method to treat this neurodegenerative disease. miR-124, one of the key miRNAs that is repressed in HD, was stably overexpressed in a stable cell line. Exosomes were then harvested from these cells using an optimized protocol. The exosomes (Exo-124) exhibited a high level of miR-124 expression and were taken up by recipient cells. RESULTS: When Exo-124 was injected into the striatum of R6/2 transgenic HD mice, expression of the target gene, RE1-Silencing Transcription Factor, was reduced. However, Exo-124 treatment did not produce significant behavioral improvement. CONCLUSION: This study serves as a proof of concept for exosome-based delivery of miRNA in neurodegenerative diseases.
Animals ; Cell Line ; Exosomes ; Huntington Disease* ; Methods ; Mice ; MicroRNAs ; Neurodegenerative Diseases ; Transcription Factors
Animals ; Cell Line ; Exosomes ; Huntington Disease* ; Methods ; Mice ; MicroRNAs ; Neurodegenerative Diseases ; Transcription Factors
Psychodynamic Psychotherapy for Functional (Psychogenic) Movement Disorders.
Journal of Movement Disorders.2017;10(1):40-44. doi:10.14802/jmd.16038
OBJECTIVE: As the literature for the treatment of functional (psychogenic) movement disorders (FMD) is sparse, we assessed clinical outcomes in patients with FMD who underwent treatment with psychodynamic psychotherapy (PDP). METHODS: A retrospective analysis of the data of patients with FMD who were referred for PDP from 2008−2014 at Emory University Medical Center was performed. RESULTS: Thirty patients were included, mean age at presentation was 50 years (SD 13.9) and majority were female (27/30). Most common movement disorder was involuntary shaking/jerky movements (50%) and tremor (43%). Mean duration of symptoms was 3.2 years and mean number of PDP visits was 4.9. PDP lead to good outcomes in 10, modest in 8, and poor in 9. Three patients lost to follow up. Mean duration of symptoms between two groups (good vs. poor) was not statistically significant (p = 0.11), mean number of PDP visits showed a trend towards significance (p = 0.053). In all cases of good outcomes precipitants of the movement disorder were identified and a majority (60%) was receptive of the diagnosis and had good insight. CONCLUSION: PDP lead to improvement in 60% of the patients which is encouraging as the treatment is challenging. This study supports heterogeneous causes of FMD including varied roles of past/recent events and demonstrates importance of psychological approaches such as PDP. Treatment with PDP should be considered in some patients with FMD but predicting who will respond remains a challenge. Further long term prospective studies with large sample size and placebo control are needed.
Academic Medical Centers ; Conversion Disorder ; Diagnosis ; Female ; Humans ; Lost to Follow-Up ; Movement Disorders* ; Prospective Studies ; Psychotherapy, Psychodynamic* ; Retrospective Studies ; Sample Size ; Tremor
Academic Medical Centers ; Conversion Disorder ; Diagnosis ; Female ; Humans ; Lost to Follow-Up ; Movement Disorders* ; Prospective Studies ; Psychotherapy, Psychodynamic* ; Retrospective Studies ; Sample Size ; Tremor
Clinical Features Indicating Nigrostriatal Dopaminergic Degeneration in Drug-Induced Parkinsonism.
Journal of Movement Disorders.2017;10(1):35-39. doi:10.14802/jmd.16045
OBJECTIVE: Patients with drug-induced parkinsonism (DIP) may have nigrostriatal dopaminergic degeneration. We studied the clinical features that may indicate nigrostriatal dopaminergic degeneration in patients with DIP. METHODS: Forty-one DIP patients were classified into normal and abnormal [¹⁸F] FP-CIT scan groups. Differences in 32 clinical features and drug withdrawal effects were studied. RESULTS: Twenty-eight patients had normal (Group I) and 13 patients had abnormal (Group II) scans. Eight patients of Group I, but none of Group II, had taken calcium channel blockers (p = 0.040). Three patients of Group I and six of Group II had hyposmia (p = 0.018). After drug withdrawal, Group I showed greater improvement in Unified Parkinson's Disease Rating Scale total motor scores and subscores for bradykinesia and tremors than Group II. Only hyposmia was an independent factor associated with abnormal scans, but it had suboptimal sensitivity. CONCLUSION: None of the clinical features were practical indicators of nigrostriatal dopaminergic degeneration in patients with DIP.
Calcium Channel Blockers ; Dopamine Plasma Membrane Transport Proteins ; Humans ; Hypokinesia ; Parkinson Disease ; Parkinsonian Disorders* ; Positron-Emission Tomography ; Tremor
Calcium Channel Blockers ; Dopamine Plasma Membrane Transport Proteins ; Humans ; Hypokinesia ; Parkinson Disease ; Parkinsonian Disorders* ; Positron-Emission Tomography ; Tremor
Validation of the Korean Version of the Scale for Outcomes in Parkinson's Disease-Autonomic.
Journal of Movement Disorders.2017;10(1):29-34. doi:10.14802/jmd.16057
OBJECTIVE: Autonomic symptoms are commonly observed in patients with Parkinson's disease (PD) and often limit the activities of daily living. The Scale for Outcomes in Parkinson's disease-Autonomic (SCOPA-AUT) was developed to evaluate and quantify autonomic symptoms in PD. The goal of this study was to translate the original SCOPA-AUT, which was written in English, into Korean and to evaluate its reliability and validity for Korean PD patients. METHODS: For the translation, the following processes were performed: forward translation, backward translation, expert review, pretest of the pre-final version and development of the final Korean version of SCOPA-AUT (K-SCOPA-AUT). In total, 127 patients with PD from 31 movement disorder clinics of university-affiliated hospitals in Korea were enrolled in this study. All patients were assessed using the K-SCOPA-AUT and other motor, non-motor, and quality of life scores. Test-retest reliability for the K-SCOPA-AUT was assessed over a time interval of 10−14 days. RESULTS: The internal consistency and reliability of the K-SCOPA-AUT was 0.727 as measured by the mean Cronbach's α-coefficient. The test-retest correlation reliability was 0.859 by the Guttman split-half coefficient. The total K-SCOPA-AUT score showed a positive correlation with other non-motor symptoms [the Korean version of non-motor symptom scale (K-NMSS)], activities of daily living (Unified Parkinson's Disease Rating Scale part II) and quality of life [the Korean version of Parkinson's Disease Quality of Life 39 (K-PDQ39)]. CONCLUSION: The K-SCOPA-AUT had good reliability and validity for the assessment of autonomic dysfunction in Korean PD patients. Autonomic symptom severities were associated with many other motor and non-motor impairments and influenced quality of life.
Activities of Daily Living ; Humans ; Korea ; Movement Disorders ; Parkinson Disease ; Quality of Life ; Reproducibility of Results
Activities of Daily Living ; Humans ; Korea ; Movement Disorders ; Parkinson Disease ; Quality of Life ; Reproducibility of Results
MicroRNA Biomarkers in Neurodegenerative Diseases and Emerging Nano-Sensors Technology.
Journal of Movement Disorders.2017;10(1):18-28. doi:10.14802/jmd.16037
MicroRNAs (miRNAs) are essential small RNA molecules (20–24 nt) that negatively regulate the expression of target genes at the post-transcriptional level. Due to their roles in a variety of biological processes, the aberrant expression profiles of miRNAs have been identified as biomarkers for many diseases, such as cancer, diabetes, cardiovascular disease and neurodegenerative diseases. In order to precisely, rapidly and economically monitor the expression of miRNAs, many cutting-edge nanotechnologies have been developed. One of the nanotechnologies, based on DNA encapsulated silver nanoclusters (DNA/AgNCs), has increasingly been adopted to create nanoscale bio-sensing systems due to its attractive optical properties, such as brightness, tuneable emission wavelengths and photostability. Using the DNA/AgNCs sensor methods, the presence of miRNAs can be detected simply by monitoring the fluorescence alteration of DNA/AgNCs sensors. We introduce these DNA/ AgNCs sensor methods and discuss their possible applications for detecting miRNA biomarkers in neurodegenerative diseases.
Biological Processes ; Biomarkers* ; Cardiovascular Diseases ; DNA ; Fluorescence ; MicroRNAs* ; Nanotechnology ; Neurodegenerative Diseases* ; RNA ; Silver
Biological Processes ; Biomarkers* ; Cardiovascular Diseases ; DNA ; Fluorescence ; MicroRNAs* ; Nanotechnology ; Neurodegenerative Diseases* ; RNA ; Silver
Country
Republic of Korea
Publisher
ElectronicLinks
Editor-in-chief
Abbreviation
Journal of Movement Disorders
Vernacular Journal Title
ISSN
2005-940X
EISSN
Year Approved
2016
Current Indexing Status
Currently Indexed
Start Year
Description
Powered by IMICAMS(
备案号: 11010502037788, 京ICP备10218182号-8)