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JMD : Journal of Movement Disorders

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Volume 10(1); January 2017
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Review Articles
Functional Neuroanatomy for Posture and Gait Control
Kaoru Takakusaki
J Mov Disord. 2017;10(1):1-17.   Published online January 18, 2017
DOI: https://doi.org/10.14802/jmd.16062
  • 51,549 View
  • 3,634 Download
  • 310 Citations
AbstractAbstract PDF
Here we argue functional neuroanatomy for posture- gait control. Multi-sensory information such as somatosensory, visual and vestibular sensation act on various areas of the brain so that adaptable posture- gait control can be achieved. Automatic process of gait, which is steady-state stepping movements associating with postural reflexes including headeye coordination accompanied by appropriate alignment of body segments and optimal level of postural muscle tone, is mediated by the descending pathways from the brainstem to the spinal cord. Particularly, reticulospinal pathways arising from the lateral part of the mesopontine tegmentum and spinal locomotor network contribute to this process. On the other hand, walking in unfamiliar circumstance requires cognitive process of postural control, which depends on knowledges of self-body, such as body schema and body motion in space. The cognitive information is produced at the temporoparietal association cortex, and is fundamental to sustention of vertical posture and construction of motor programs. The programs in the motor cortical areas run to execute anticipatory postural adjustment that is optimal for achievement of goal-directed movements. The basal ganglia and cerebellum may affect both the automatic and cognitive processes of posturegait control through reciprocal connections with the brainstem and cerebral cortex, respectively. Consequently, impairments in cognitive function by damages in the cerebral cortex, basal ganglia and cerebellum may disturb posture-gait control, resulting in falling.
MicroRNA Biomarkers in Neurodegenerative Diseases and Emerging NanoSensors Technology
Pratik Shah, Seok Keun Cho, Peter Waaben Thulstrup, Morten Jannik Bjerrum, Phil Hyu Lee, Ju-Hee Kang, Yong-Joo Bhang, Seong Wook Yang
J Mov Disord. 2017;10(1):18-28.   Published online January 18, 2017
DOI: https://doi.org/10.14802/jmd.16037
  • 13,368 View
  • 361 Download
  • 14 Citations
AbstractAbstract PDF
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.
Original Articles
Validation of the Korean Version of the Scale for Outcomes in Parkinson’s Disease-Autonomic
Ji-Young Kim, In-Uk Song, Seong-Beom Koh, Tae-Beom Ahn, Sang Jin Kim, Sang-Myung Cheon, Jin Whan Cho, Yun Joong Kim, Hyeo-Il Ma, Mee-Young Park, Jong Sam Baik, Phil Hyu Lee, Sun Ju Chung, Jong-Min Kim, Han-Joon Kim, Young-Hee Sung, Do Young Kwon, Jae-Hyeok Lee, Jee-Young Lee, Ji Sun Kim, Ji Young Yun, Hee Jin Kim, Jin Young Hong, Mi-Jung Kim, Jinyoung Youn, Ji Seon Kim, Eung Seok Oh, Hui-Jun Yang, Won Tae Yoon, Sooyeoun You, Kyum-Yil Kwon, Hyung-Eun Park, Su-Yun Lee, Younsoo Kim, Hee-Tae Kim, Joong-Seok Kim
J Mov Disord. 2017;10(1):29-34.   Published online January 18, 2017
DOI: https://doi.org/10.14802/jmd.16057
  • 12,005 View
  • 321 Download
  • 17 Citations
AbstractAbstract PDFSupplementary Material
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.
Clinical Features Indicating Nigrostriatal Dopaminergic Degeneration in Drug-Induced Parkinsonism
Seung Ha Lee, Han Kyeol Kim, Young Gun Lee, Chul Hyoung Lyoo, Sung Jun Ahn, Myung Sik Lee
J Mov Disord. 2017;10(1):35-39.   Published online December 27, 2016
DOI: https://doi.org/10.14802/jmd.16045
  • 8,008 View
  • 148 Download
  • 3 Citations
AbstractAbstract PDFSupplementary Material
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.
Psychodynamic Psychotherapy for Functional (Psychogenic) Movement Disorders
Vibhash D. Sharma, Randi Jones, Stewart A. Factor
J Mov Disord. 2017;10(1):40-44.   Published online December 27, 2016
DOI: https://doi.org/10.14802/jmd.16038
  • 10,468 View
  • 169 Download
  • 8 Citations
AbstractAbstract PDF
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.
Exosome-Based Delivery of miR-124 in a Huntington’s Disease Model
Soon-Tae Lee, Wooseok Im, Jae-Jun Ban, Mijung Lee, Keun-Hwa Jung, Sang Kun Lee, Kon Chu, Manho Kim
J Mov Disord. 2017;10(1):45-52.   Published online January 18, 2017
DOI: https://doi.org/10.14802/jmd.16054
  • 12,243 View
  • 337 Download
  • 64 Citations
AbstractAbstract PDF
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.
Case Reports
Familial Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes
Yoonju Lee, Nan Young Kim, Sangkyoon Hong, Su Jin Chung, Seong Ho Jeong, Phil Hyu Lee, Young H. Sohn
J Mov Disord. 2017;10(1):53-58.   Published online December 27, 2016
DOI: https://doi.org/10.14802/jmd.16044
  • 8,288 View
  • 167 Download
  • 9 Citations
AbstractAbstract PDFSupplementary Material
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.
Suspected Perinatal Depression Revealed to be Hereditary Diffuse Leukoencephalopathy with Spheroids
Josefine Blume, Robert Weissert
J Mov Disord. 2017;10(1):59-61.   Published online December 27, 2016
DOI: https://doi.org/10.14802/jmd.16050
  • 8,091 View
  • 99 Download
  • 4 Citations
AbstractAbstract PDFSupplementary Material
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.
Letters to the editor
Camptocormia with Transient Ischemic Attack
Ju-Hee Oh, Dong-Woo Ryu, Si-Hoon Lee, Joong-Seok Kim
J Mov Disord. 2017;10(1):62-63.   Published online January 18, 2017
DOI: https://doi.org/10.14802/jmd.16043
  • 5,702 View
  • 83 Download
  • 2 Citations
PDF
Multifocal Myoclonus as a Manifestation of Acute Cerebral Infarction Recovered by Carotid Arterial Stenting
Hyangkyoung Kim, Jun Soo Byun, Mark Hallett, Hae-Won Shin
J Mov Disord. 2017;10(1):64-66.   Published online January 18, 2017
DOI: https://doi.org/10.14802/jmd.16040
  • 6,578 View
  • 73 Download
PDF
Metronidazole-Induced Craniocervical Myoclonus with Reversible Bilateral Dentate Nucleus Lesions
Hyun Chang Lee, Young Eun Kim, Hyeo-Il Ma
J Mov Disord. 2017;10(1):67-68.   Published online January 18, 2017
DOI: https://doi.org/10.14802/jmd.16021
  • 10,503 View
  • 116 Download
  • 2 Citations
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JMD : Journal of Movement Disorders