Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population

ConclusionsParkinsonism, dystonia, and cognitive ‐psychiatric symptoms are common features in patients with SCA mutations in our population. Our study identifies a different clinical spectrum of SCA1, SCA2, SCA3, SCA6, and SCA17 compared to Caucasians.
Source: Brain and Behavior - Category: Neurology Authors: Tags: ORIGINAL RESEARCH Source Type: research

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In this study, the retrieving of gold nanoparticles from Euphorbia fischeriana root was amalgamated by standard procedure. Fabricated gold nanoparticles were portrayed through the investigations of ultraviolet and visible spectrophotometry (UV–Vis), Fourier transform infrared spectroscopy (FTIR), High resolution transmission electron microscopy (HRTEM) and X-ray diffraction (XRD). The UV–Vis and FTIR results explicated the obtained particles were sphere-shaped and the terpenoids of Euphorbia fischeriana had strong communications with gold surface. The HRTEM and XRD images exposed the produced gold nanoparticles...
Source: Journal of Photochemistry and Photobiology B: Biology - Category: Speech-Language Pathology Source Type: research
Publication date: December 2019Source: Molecular Genetics and Metabolism Reports, Volume 21Author(s): Felix-Julian Campos-Garcia, Oscar F. Chacon-Camacho, Silvina Contreras-Capetillo, Marisa Cruz-Aguilar, Carolina E. Medina-Escobedo, Claudia M. Moreno-Graciano, Agustín Rodas, Luz del Alba Herrera-Perez, Juan C. ZentenoAbstractBiallelic mutations of the GCDH gene result in Glutaric Aciduria type 1 (GA1; OMIM #231670), an uncommon autosomal recessive inborn error caused by the deficiency of glutaryl-CoA dehydrogenase (CCDH), a mitochondrial matrix protein involved in the degradation of l-lysine, L-hydroxylysine, and L...
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research
Abstract Autoimmune encephalitides, with an estimated incidence of 1.5 per million population per year, although described only 15 years ago, have already had a remarkable impact in neurology and paved the field to autoimmune neuropsychiatry. Many patients traditionally presented with aberrant behavior, especially of acute or subacute onset, and treated with anti-psychotic therapies, turn out to have a CNS autoimmune disease with pathogenic autoantibodies against synaptic antigens responding to immunotherapies. The review describes the clinical spectrum of these disorders, and the pathogenetic role of key autoanti...
Source: Journal of Autoimmunity - Category: Allergy & Immunology Authors: Tags: J Autoimmun Source Type: research
ConclusionsDifferent patterns of sleep disturbances are observed in HD patients: insomnia, difficulties in falling asleep, frequent nocturnal awakenings, and excessive daytime sleepiness are the most common sleep problems reported by patients with HD. In several HD studies, specific changes in sleep architecture and in circadian melatonin secretion were identified in laboratory testing.Sleep disorders in HD have diverse and complex determinants, the most significant of which includes damage to brain areas that are responsible for the proper sleep pattern and circadian rhythm regulation. Sleep and circadian rhythm disorders...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
Conclusion: Awareness among physicians, particularly psychiatrists and neurologists, regarding IOP programs as a treatment option for comorbid depression in the clinical setting of progressive SCA or other neurological conditions can be beneficial to patients requiring an increased level of psychiatric treatment. PMID: 30886755 [PubMed]
Source: Case Reports in Psychiatry - Category: Psychiatry Tags: Case Rep Psychiatry Source Type: research
AbstractPrimary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by symmetrical and bilateral brain calcification. It is typically inherited as an autosomal dominant disorder, and de novo variants have also been described. Interestingly, just recent studies have reported the first autosomal recessive PFBC-causative gene. PFBC patients exhibit high clinical heterogeneity including Parkinsonism, dystonia, ataxia, depression, and migraine. Mice studies, an important research tool, have been a breakthrough in increasing the understanding of PFBC ’s main signs and symptoms, and many f...
Source: Journal of Molecular Neuroscience - Category: Neuroscience Source Type: research
Authors: Kikuchi A, Takeda A, Sugeno N, Miura E, Kato K, Hasegawa T, Baba T, Konno M, Oshima R, Watanuki S, Hiraoka K, Tashiro M, Aoki M Abstract We occasionally observe long-term remission of cervical dystonia after several botulinum toxin treatments. However, botulinum toxin transiently acts on neuromuscular junctions. We herein report that a cervical dystonia patient with spinocerebellar ataxia type 1 could have long-term remission as a result of the depression of hypermetabolism in the bilateral putamen and primary sensorimotor cortex after botulinum toxin therapy. We suggest that botulinum toxin impacts the ce...
Source: Internal Medicine - Category: Internal Medicine Tags: Intern Med Source Type: research
Conclusions: This cohort illustrates the expanding phenotypic and genotypic variability of ATP1A3 mutations even within the RDP diagnosis suggesting that systematic testing of a wider clinical spectrum of patients is warranted.Disclosure: Dr. Meijer has nothing to disclose. Dr. Lubarr has nothing to disclose. Dr. Greene has nothing to disclose. Dr. Frucht has received personal compensation for activities with Merz Pharmaceuticals as a consultant. Dr. Raymond has nothing to disclose. Dr. Severt has received personal compensation for activities with Teva, Allergan, Impax, and Lundbeck. Dr. Shanker has nothing to disclose. Dr...
Source: Neurology - Category: Neurology Authors: Tags: Movement Disorders: Ataxia and Dystonia Source Type: research
Conclusions: This report of expands the clinical phenotype of POLR1C mutations with the first case manifesting as an adult-onset leukodystrophy, as well as Mexican ancestry. Supported by NIHDisclosure: Dr. Geschwind has received personal compensation for activities with Best Doctors, Advanced Medical, Guidepoint Global, Gerson-Lehrman Group, and Quest Diagnostics. Dr. Geschwind has received research support from NIH/NIA, the Tau Consortium, Michael J. H Dr. Kim has nothing to disclose. Dr. Wahl has nothing to disclose. Dr. Gahl has nothing to disclose. Dr. Toro has nothing to disclose.
Source: Neurology - Category: Neurology Authors: Tags: Aging and Dementia: Neurogenetics Source Type: research
BOSTON (CBS) — A recall for a children’s cold medicine sold by retailers like CVS and Stop and Shop has been issued. In a release posted on the company’s website, Perrigo Company said they had issued a recall for two batches of their children’s guaifenesin grape liquid and three batches of their children’s guaifenesin DM cherry liquid. Both products are sold in 4 oz. bottles with a dosage cup included in the package. The recall was issued because the markings on some of the dosage cups are inaccurate–which could lead to overdoses. “There have been no reports of adver...
Source: WBZ-TV - Breaking News, Weather and Sports for Boston, Worcester and New Hampshire - Category: Consumer Health News Authors: Tags: Health Local News Syndicated Local drug recall Perrigo Source Type: news
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