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Applications of CRISPR/Cas9 for Gene Editing in Hereditary Movement Disorders
임우석,문장섭,김만호 대한파킨슨병및이상운동질환학회 2016 Journal Of Movement Disorders Vol.9 No.3
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. CRISPR/Cas9 has advantages in terms of clinical applicability over other genome editing technologies such as zinc-finger nucleases and transcription activator-like effector nucleases because of easy in vivo delivery. Here, we review and discuss the applicability of CRISPR/Cas9 to preclinical studies or gene therapy in hereditary movement disorders
Re: Comments on “Chorea as a Presentation of SARS-CoV-2 Encephalitis: A Clinical Case Report”
Muhammad Hassan,Naveed Ullah Khan,Mazhar Badshah 대한파킨슨병및이상운동질환학회 2022 Journal Of Movement Disorders Vol.15 No.1
There are various etiologies and pathogenesis of myoclonus, most often categorized into cortical, subcortical, or spinal myoclonus. However, the pathophysiology of chorea is mainly implicated in dysfunction of the basal ganglia motor circuitry.
Mayuko Ogawa,Genko Oyama,Satoko Sekimoto,Taku Hatano,Nobutaka Hattori 대한파킨슨병및이상운동질환학회 2022 Journal Of Movement Disorders Vol.15 No.1
Using telemedicine is a way to improve the accessibility of specialists for patients with Parkinson’s disease (PD); however, it is not widely used in Japan. We investigated the efficacy of telemedicine in PD by using a single-center cross-sectional questionnaire survey.
Divyani Garg,Rajinder K. Dhamija 대한파킨슨병및이상운동질환학회 2022 Journal Of Movement Disorders Vol.15 No.1
A 23-year-old pregnant female, in the 36th week of gestation, presented to the emergency room with high-grade fever for one week along with abnormal movements of her eyes and limbs from day two of fever onset. There was no history of drug or toxin intake. She had been well otherwise and had no significant past medical history. On examination, she was restless and appeared sick. Her blood pressure was 90/50 mm Hg, pulse rate 120 beats/minute, respiratory rate 32 breaths/minute and oxygen saturation 96% on room air. She had bilateral basal crepitations.
The Supplementary Motor Complex in Parkinson’s Disease
Shervin Rahimpour,Shashank Rajkumar,Mark Hallett 대한파킨슨병및이상운동질환학회 2022 Journal Of Movement Disorders Vol.15 No.1
Parkinson’s disease (PD) is a neurodegenerative disorder characterized by both motor and nonmotor symptoms. Although the basal ganglia is traditionally the primary brain region implicated in this disease process, this limited view ignores the roles of the cortex and cerebellum that are networked with the basal ganglia to support motor and cognitive functions. In particular, recent research has highlighted dysfunction in the supplementary motor complex (SMC) in patients with PD. Using the PubMed and Google Scholar search engines, we identified research articles using keywords pertaining to the involvement of the SMC in action sequencing impairments, temporal processing disturbances, and gait impairment in patients with PD. A review of abstracts and full-text articles was used to identify relevant articles. In this review of 63 articles, we focus on the role of the SMC in PD, highlighting anatomical and functional data to create new perspectives in understanding clinical symptoms and, potentially, new therapeutic targets. The SMC has a nuanced role in the pathophysiology of PD, with both hypo- and hyperactivation associated with various symptoms. Further studies using more standardized patient populations and functional tasks are needed to more clearly elucidate the role of this region in the pathophysiology and treatment of PD.
Deep Brain Stimulation for Cockayne Syndrome-Associated Movement Disorder
Joseph S. Domino,Rose Gelineau-Morel,Christian Kaufman 대한파킨슨병및이상운동질환학회 2022 Journal Of Movement Disorders Vol.15 No.1
Cockayne syndrome (CS) is a rare progeroid disorder characterized by multisystem degeneration, including neurological dysfunction, for which deep brain stimulation (DBS) is a proposed treatment. This study represents only the third case of DBS for CS-associated movement disorder and the first in which both proposed targets had devices implanted, allowing for direct comparison. A case of DBS for CS-associated movement disorder is presented. Previous literature documents two cases with one targeting the ventral intermediate nucleus of the thalamus (VIM) and the other targeting the globus pallidus interna (GPi). Our patient underwent stimulation of GPi nuclei followed by repositioning to VIM nuclei with improved symptom control using VIM stimulation. In all cases, there was a significant clinical benefit without off-target effects. CS-associated movement disorder exhibits phenotypic variability for which DBS is a viable treatment. Target selection should be driven by clinical phenotype.
Resilience and Trauma among Patients with Parkinson’s Disease during the COVID-19 Pandemic
Roberto Erro,Sofia Cuoco,Emanuele Nigro,Raffaele Ragone,Paolo Barone 대한파킨슨병및이상운동질환학회 2022 Journal Of Movement Disorders Vol.15 No.1
Beyond the direct consequences of the infection, the pandemic has led to a significant amount of stress among the general population for several reasons, including unclear information about the infection from the media, the shortage of medical resources and protective supplies, lockdown restrictions, and more generally, the socioeconomic consequences of the pandemic. Among other vulnerable individuals, PD patients have experienced severe psychological impacts due to COVID-19.
Dancing Feet Dyskinesia in a Patient with GBA-PD
Diana A. Olszewska,Allan McCarthy,Alexandra I. Soto-Beasley,Ronald L. Walton,Owen A. Ross,Tim Lynch 대한파킨슨병및이상운동질환학회 2022 Journal Of Movement Disorders Vol.15 No.1
Dancing-like dyskinesia has been reported as part of a phenotype associated with pathogenic variants in the parkin gene responsible for autosomal-recessive Parkinson’s disease (PD) [1]. Parkin variants cause early-onset PD (EOPD, < age 50), with slow disease progression, sensitivity to levodopa, and frequent dystonia
신채원,Beomseok Jeon 대한파킨슨병및이상운동질환학회 2022 Journal Of Movement Disorders Vol.15 No.3
Nine patients with Parkinson’s disease (PD) or idiopathic rapid eye movement sleep disorder (iRBD) who underwent GI operation and had full-depth intestinal blocks were included. All patients were selected from our previous study population. A total of 10 slides (5 serial sections from the proximal and distal blocks) per patient were analyzed.
COVID-19 Associated Acute Necrotizing Encephalopathy Presenting as Parkinsonism and Myorhythmia
Tien Lee Ong,Khariah Mat Nor,Yusniza Yusoff,Sapiah Sapuan 대한파킨슨병및이상운동질환학회 2022 Journal Of Movement Disorders Vol.15 No.1
A previously healthy 31-year-old man presented with a nine-day history of fever, cough, and worsening shortness of breath. His chest radiograph showed bilateral ground-glass opacities, and he tested positive for COVID-19 by reverse-transcriptase polymerase chain reaction (PCR) from nasal swabs. He required nasal cannula supplemental oxygen and was given 8 mg intravenous dexamethasone daily, 1,800 mg favipiravir tablets twice daily and subcutaneous low-molecular-weight heparin.