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Journal of Movement Disorders

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https://www.readbyqxmd.com/read/28122432/functional-neuroanatomy-for-posture-and-gait-control
#1
REVIEW
Kaoru Takakusaki
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...
January 2017: Journal of Movement Disorders
https://www.readbyqxmd.com/read/28122431/validation-of-the-korean-version-of-the-scale-for-outcomes-in-parkinson-s-disease-autonomic
#2
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
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)...
January 2017: Journal of Movement Disorders
https://www.readbyqxmd.com/read/28122430/exosome-based-delivery-of-mir-124-in-a-huntington-s-disease-model
#3
Soon-Tae Lee, Wooseok Im, Jae-Jun Ban, Mijung Lee, Keun-Hwa Jung, Sang Kun Lee, Kon Chu, Manho Kim
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...
January 2017: Journal of Movement Disorders
https://www.readbyqxmd.com/read/28122429/suspected-perinatal-depression-revealed-to-be-hereditary-diffuse-leukoencephalopathy-with-spheroids
#4
Josefine Blume, Robert Weissert
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...
January 2017: Journal of Movement Disorders
https://www.readbyqxmd.com/read/28122428/clinical-features-indicating-nigrostriatal-dopaminergic-degeneration-in-drug-induced-parkinsonism
#5
Seung Ha Lee, Han Kyeol Kim, Young Gun Lee, Chul Hyoung Lyoo, Sung Jun Ahn, Myung Sik Lee
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 [(18)F] 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...
January 2017: Journal of Movement Disorders
https://www.readbyqxmd.com/read/28122427/familiar-hyperekplexia-a-potential-cause-of-cautious-gait-a-new-korean-case-and-a-systematic-review-of-phenotypes
#6
Yoonju Lee, Nan Young Kim, Sangkyoon Hong, Su Jin Chung, Seong Ho Jeong, Phil Hyu Lee, Young H Sohn
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...
January 2017: Journal of Movement Disorders
https://www.readbyqxmd.com/read/28122426/camptocormia-with-transient-ischemic-attack
#7
Ju-Hee Oh, Dong-Woo Ryu, Si-Hoon Lee, Joong-Seok Kim
No abstract text is available yet for this article.
January 2017: Journal of Movement Disorders
https://www.readbyqxmd.com/read/28122425/multifocal-myoclonus-as-a-manifestation-of-acute-cerebral-infarction-recovered-by-carotid-arterial-stenting
#8
Hyangkyoung Kim, Jun Soo Byun, Mark Hallett, Hae-Won Shin
No abstract text is available yet for this article.
January 2017: Journal of Movement Disorders
https://www.readbyqxmd.com/read/28122424/psychodynamic-psychotherapy-for-functional-psychogenic-movement-disorders
#9
Vibhash D Sharma, Randi Jones, Stewart A Factor
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...
January 2017: Journal of Movement Disorders
https://www.readbyqxmd.com/read/28122423/microrna-biomarkers-in-neurodegenerative-diseases-and-emerging-nano-sensors-technology
#10
REVIEW
Pratik Shah, Seok Keun Cho, Peter Waaben Thulstrup, Morten Jannik Bjerrum, Phil Hyu Lee, Ju-Hee Kang, Yong-Joo Bhang, Seong Wook Yang
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...
January 2017: Journal of Movement Disorders
https://www.readbyqxmd.com/read/28122422/metronidazole-induced-craniocervical-myoclonus-with-reversible-bilateral-dentate-nucleus-lesions
#11
Hyun Chang Lee, Young Eun Kim, Hyeo-Il Ma
No abstract text is available yet for this article.
January 2017: Journal of Movement Disorders
https://www.readbyqxmd.com/read/27667189/survival-of-korean-huntington-s-disease-patients
#12
Han-Joon Kim, Chae-Won Shin, Beomseok Jeon, Hyeyoung Park
OBJECTIVE: The survival of Huntington's disease (HD) patients is reported to be 15-20 years. However, most studies on the survival of HD have been conducted in patients without genetic confirmation with the possible inclusion of non-HD patients, and all studies have been conducted in Western countries. The survival of patients with HD in East Asia, where its prevalence is 10-50-fold lower compared with Western populations, has not yet been reported. METHODS: Forty-seven genetically confirmed Korean HD patients from independent families were included in this retrospective medical record review study...
September 2016: Journal of Movement Disorders
https://www.readbyqxmd.com/read/27667188/falls-and-their-associated-risks-in-parkinson-s-disease-patients-in-nigeria
#13
Temitope Hannah Farombi, Mayowa O Owolabi, Adesola Ogunniyi
OBJECTIVE: Falls are a devastating consequence of Parkinson's disease (PD) and are due to motor imbalance. However, the frequency of falls and their risk factors among Nigerians with PD is not known despite the significant increase in PD cases in the country. To assess fall risk factors and frequency in Nigerian PD patients. METHODS: Using an analytical design to compare falling versus non-falling patients, 81 PD patients were assessed for clinical factors, frequency of falls, and candidate risk factors for falls according to the Tinetti Balance and Gait, Unified Parkinson's Disease Rating Scale subsection 1, and Timed Up and Go Tests...
September 2016: Journal of Movement Disorders
https://www.readbyqxmd.com/read/27667187/the-mmse-and-moca-for-screening-cognitive-impairment-in-less-educated-patients-with-parkinson-s-disease
#14
Ji In Kim, Mun Kyung Sunwoo, Young H Sohn, Phil Hyu Lee, Jin Y Hong
OBJECTIVE: To explore whether the Mini-Mental State Examination (MMSE) and Montreal Cognitive Assessment (MoCA) can be used to screen for dementia or mild cognitive impairment (MCI) in less educated patients with Parkinson's disease (PD). METHODS: We reviewed the medical records of PD patients who had taken the Korean MMSE (K-MMSE), Korean MoCA (K-MoCA), and comprehensive neuropsychological tests. Predictive values of the K-MMSE and K-MoCA for dementia or MCI were analyzed in groups divided by educational level...
September 2016: Journal of Movement Disorders
https://www.readbyqxmd.com/read/27667186/cognition-and-visit-to-visit-variability-of-blood-pressure-and-heart-rate-in-de-novo-patients-with-parkinson-s-disease
#15
Kyum-Yil Kwon, Seon Jong Pyo, Hye Mi Lee, Woo-Keun Seo, Seong-Beom Koh
OBJECTIVE: We sought to identify whether the characteristics of long-term visit-to-visit blood pressure (BP) and heart rate (HR) are related to baseline cognitive profiles in, Parkinson's disease (PD). METHODS: We selected drug-naïve PD patients who visited our hospital at least 10 times with a baseline assessment of the Seoul neuropsychological battery. BP and HR were measured at each visit, and the variability of the systolic BP/diastolic BP (DBP) and HR was derived from the parameters of serial 10 office visits...
September 2016: Journal of Movement Disorders
https://www.readbyqxmd.com/read/27667185/applications-of-crispr-cas9-for-gene-editing-in-hereditary-movement-disorders
#16
REVIEW
Wooseok Im, Jangsup Moon, Manho Kim
Gene therapy is a potential therapeutic strategy for treating hereditary movement disorders, including hereditary ataxia, dystonia, Huntington's disease, and Parkinson's disease. Genome editing is a type of genetic engineering in which DNA is inserted, deleted or replaced in the genome using modified nucleases. Recently, clustered regularly interspaced short palindromic repeat/CRISPR associated protein 9 (CRISPR/Cas9) has been used as an essential tool in biotechnology. Cas9 is an RNA-guided DNA endonuclease enzyme that was originally associated with the adaptive immune system of Streptococcus pyogenes and is now being utilized as a genome editing tool to induce double strand breaks in DNA...
September 2016: Journal of Movement Disorders
https://www.readbyqxmd.com/read/27667184/episodic-ataxias-clinical-and-genetic-features
#17
REVIEW
Kwang-Dong Choi, Jae-Hwan Choi
Episodic ataxia (EA) is a clinically heterogeneous group of disorders that are characterized by recurrent spells of truncal ataxia and incoordination lasting minutes to hours. Most have an autosomal dominant inheritance pattern. To date, 8 subtypes have been defined according to clinical and genetic characteristics, and five genes are known to be linked to EAs. Both EA1 and EA2, which are caused by mutations in KCNA1 and CACNA1A, account for the majority of EA, but many patients with no identified mutations still exhibit EA-like clinical features...
September 2016: Journal of Movement Disorders
https://www.readbyqxmd.com/read/27240811/woodhouse-sakati-syndrome-report-of-the-first-tunisian-family-with-the-c2orf37-gene-mutation
#18
Olfa Hdiji, Emna Turki, Nouha Bouzidi, Imen Bouchhima, Mariem Damak, Saeed Bohlega, Chokri Mhiri
Woodhouse-Sakati syndrome (WSS) is an infrequent autosomal recessive condition characterized by progressive extrapyramidal signs, mental retardation, hypogonadism, alopecia, and diabetes mellitus. This syndrome belongs to a heterogeneous group of inherited neurodegenerative disorders characterized iron accumulation in the brain, and it is caused by mutations of the C2orf37 gene. We report the first Tunisian family with two affected sisters presenting with a phenotype suggestive of WSS. We examined the index patient presenting with movement disorders and mental retardation and then searched for similar cases in her family, which identified a sister with similar signs...
May 2016: Journal of Movement Disorders
https://www.readbyqxmd.com/read/27240810/cerebrospinal-fluid-amyloid-%C3%AE-1-42-tau-and-alpha-synuclein-predict-the-heterogeneous-progression-of-cognitive-dysfunction-in-parkinson-s-disease
#19
REVIEW
Ju-Hee Kang
Parkinson's disease (PD) is a neurodegenerative disease with heterogeneous pathological and clinical features. Cognitive dysfunction, a frequent non-motor complication, is a risk factor for poor prognosis and shows inter-individual variation in its progression. Of the clinical studies performed to identify biomarkers of PD progression, the Parkinson's Progression Markers Initiative (PPMI) study is the largest study that enrolled drug-naïve and very early stage PD patients. The baseline characteristics of the PPMI cohort were recently published...
May 2016: Journal of Movement Disorders
https://www.readbyqxmd.com/read/27240809/movement-disorders-following-cerebrovascular-lesions-in-cerebellar-circuits
#20
REVIEW
Seong-Min Choi
Cerebellar circuitry is important to controlling and modifying motor activity. It conducts the coordination and correction of errors in muscle contractions during active movements. Therefore, cerebrovascular lesions of the cerebellum or its pathways can cause diverse movement disorders, such as action tremor, Holmes' tremor, palatal tremor, asterixis, and dystonia. The pathophysiology of abnormal movements after stroke remains poorly understood. However, due to the current advances in functional neuroimaging, it has recently been described as changes in functional brain networks...
May 2016: Journal of Movement Disorders
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