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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
The NHQ-K showed acceptable internal consistency (0.83) and interrater reliability (0.95). Nocturnal hypokinesia significantly affected HRQoL in PD patients at both the early and advanced stages (adjusted p < 0.001). Increased severity of nocturnal hypokinesia was associated with dyskinesias, off-period disability, apathy, and anxious mood in PD patients (adjusted p < 0.01) after controlling for disease severity and medication dose.
The Four Square Step Test (FSST) is a tool that assesses dynamic balance during obstacle step-over. To date, few studies have used the FSST to measure balance in patients with Parkinson’s disease (PD). This study aimed to verify that patients with PD, even at the de novo early stage, take more time to perform the FSST and identify which factors, cognitive status or cardinal motor symptoms, are related most to FSST scores.
Lewy body dementia (LBD) is the second most common neurodegenerative dementia after Alzheimer’s disease (AD) . LBD includes dementia with Lewy bodies (DLB) and Parkinson’s disease (PD) with dementia (PDD), which share clinical features. DLB and PDD are classified according to the timing of the onset of dementia in relation to that of motor symptoms. PDD and DLB show similar neuropathological changes, such as cortical and brainstem Lewy bodies accompanied by varying degrees of AD pathology.
Involuntary vocalizations include a wide spectrum of soundsassociated with physiological responses such as coughing orsneezing, emotional responses such as laughing or crying, andeven the utterance of words that have a specific intended meaning. 1 These are often associated with Tourette’s syndrome andother tic disorders.
Nine patients were included in the study. All patients had facial dysmorphism and ocular abnormalities, and 4 patients had dystonia. Ocular tilt reaction and alternate skew deviation (66%) were the most common ocular abnormalities. Horizontally aligned superior cerebellar peduncles were observed in all four patients with diffusion tensor imaging, with a lack of decussation in three. Exome sequencing performed in four patients revealed novel variants in the MKS1, CPLANE1, and PIBF1 genes.
ObjectiveaaTo evaluate the accuracy and quality of Korean videos associated with restless legs syndrome (RLS) on YouTube. MethodsaaA YouTube search was performed on April 1, 2020 using the term “restless legs syndrome” in the Korean language. Two reviewers coded the source, content, and demographics of the included videos. Video quality was assessed using the modifiedDISCERN (mDISCERN) instrument. ResultsaaAmong the 80 videos analyzed, 44 (55.0%) were reliable, and 36 (45.0%) were misleading. There was a trend toward ahigher number of mean daily views in the misleading videos than in the reliable videos. Most of the misleading videos (72.2%)advocated complementary and alternative medicine as a primary treatment for RLS. Although the reliable videos had highermDISCERN scores than the misleading videos, the overall quality of the reliable videos was low. ConclusionaaMany Korean videos regarding RLS on YouTube involve a risk of exposure to misinformation and are of unsatisfactoryquality
PD patients reported significantly decreased physical and mental HRQoL compared to their caregivers (both p < 0.001). Unemployment, the need for social support services, rehabilitation use, REM sleep behavior disorder, impulse control disorders and features suggestive of increasing disease severity hallmarked by increasing PD duration, higher MDS UPDRS-III (Movement Disorder Society–Unified Parkinson’s Disease Rating Scale–Part III) scores, higher daily levodopa equivalence dose and motor fluctuations were consistent with a lower HRQoL in our PD cohort. Furthermore, decreased physical activity, chronic pain, depression, constipation and upper gastrointestinal dysfunction (particularly indigestion, excess fullness and bloating) suggested vulnerability to reduced HRQoL. Overall, PD patients perceived their health to decline by 12% more than their caregivers did over a 1-year period.
Since the first description of immune-mediated cerebellar ataxias (IMCAs) by Charcot in 1868, several milestones have been reached in our understanding of this group of neurological disorders. IMCAs have diverse etiologies, such as gluten ataxia, postinfectious cerebellitis, paraneoplastic cerebellar degeneration, opsoclonus myoclonus syndrome, anti-GAD ataxia, and primary autoimmune cerebellar ataxia. The cerebellum, a vulnerable autoimmune target of the nervous system, has remarkable capacities (collectively known as the cerebellar reserve, closely linked to plasticity) to compensate and restore function following various pathological insults. Therefore, good prognosis is expected when immune-mediated therapeutic interventions are delivered during early stages when the cerebellar reserve can be preserved. However, some types of IMCAs show poor responses to immunotherapies, even if such therapies are introduced at an early stage. Thus, further research is needed to enhance our understanding of the autoimmune mechanisms underlying IMCAs, as such research could potentially lead to the development of more effective immunotherapies. We underscore the need to pursue the identification of robust biomarkers.
Dystonia is defined as sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. Task-specific dystonia (TSD) encompasses a group of focal dystonias, affecting an isolated body part, predominantly laryngeal and hand muscles, and triggered by a specific and often skilled task. Frequently reported TSDs include laryngeal dystonia, writer’s cramp, musician’s dystonia, and occupational dystonia. Speech-induced dystonia often involves laryngeal and cranial muscles, with a speech-induced cervical TSD very rarely reported