Dysphagia in a Patient with Cervical Dystonia

Source: Dysphagia - Category: Speech Therapy Source Type: research

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Abstract Huntington's disease (HD) is an autosomal neurodegenerative disease characterized by chorea, dystonia, motor ataxia, cognitive decline and psychiatric disorders with gradual loss of nerve cells and has no existing cure for the disease. In the present study, a mitochondrial toxin, 3-nitropropionic acid (3-NP) is used to induce HD like symptoms in rats. Tetramethylpyrazine is one of the active ingredients of Chuan Xiong which was reported to have neurotrophic and neuroprotective activities. The present study was designed to evaluate the role of TMP on 3-NP induced behavioral, biochemical, neurochemical, and...
Source: Biomedicine and pharmacotherapy = Biomedecine and pharmacotherapie - Category: Drugs & Pharmacology Authors: Tags: Biomed Pharmacother Source Type: research
Publication date: September 2018Source: Molecular Genetics and Metabolism Reports, Volume 16Author(s): Kishore R. Kumar, Gautam Wali, Ryan L. Davis, Amali C. Mallawaarachchi, Elizabeth E. Palmer, Velimir Gayevskiy, Andre E. Minoche, David Veivers, Marcel E. Dinger, Alan Mackay-Sim, Mark J. Cowley, Carolyn M. SueAbstractZellweger syndrome spectrum disorders are caused by mutations in any of at least 12 different PEX genes. This includes PEX16, an important regulator of peroxisome biogenesis. Using whole genome sequencing, we detected previously unreported, biallelic variants in PEX16 [NM_004813.2:c.658G>A, p.(Ala220Thr) ...
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research
Laura Avanzino, Mirta Fiorio, Antonella Conte
Source: Frontiers in Neurology - Category: Neurology Source Type: research
This report describes a novel case of a 20-year-old male with a history of dopa-responsive dystonia and schizoaffective disorder who presented with both dystonia and psychosis after a period of medication noncompliance. This case provides a reference for the management of psychosis in patients with dopa-responsive dystonia and highlights the need for more research on the nonmotor symptoms that accompany this neurological disorder. PMID: 30013806 [PubMed]
Source: Case Reports in Psychiatry - Category: Psychiatry Tags: Case Rep Psychiatry Source Type: research
In this study, we developed a scalable approach for the functional analysis of clinical variants in GPCR pathways along with a complete analytical framework. We applied the strategy to evaluate an extensive set of dystonia-causing mutations in G protein Gαolf. Our quantitative analysis revealed diverse mechanisms by which pathogenic variants disrupt GPCR signaling, leading to a mechanism-based classification of dystonia. In light of significant clinical heterogeneity, the mechanistic analysis of individual disease-associated variants permits tailoring personalized intervention strategies, which makes it superior to t...
Source: Cell Reports - Category: Cytology Source Type: research
Conclusion: Dystonia in SCA3 is frequent and displays highly variable clinical profiles and severity grades. Dystonia is therefore a present symptom in SCA3, which may precede the SCA3 classic symptoms. Dystonia diagnosis is yet to be properly recognized within SCA3 patient. PMID: 30008965 [PubMed]
Source: The Open Neurology Journal - Category: Neurology Tags: Open Neurol J Source Type: research
Indar Kumar Sharawat, Swarup Ghosh, Prateek Bhatia, Vikas Bhatia, Arushi Gahlot SainiNeurology India 2018 66(4):1204-1206
Source: Neurology India - Category: Neurology Authors: Source Type: research
Condition:   Dystonia Intervention:   Device: Shimmer monitoring Sponsor:   The Leeds Teaching Hospitals NHS Trust Completed
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Abstract Movement disorders are reported in idiopathic autism but the extent to which comparable movement disorders are found in syndromic/co-morbid autism is unknown. A systematic search of Medline, Embase, PsychINFO and CINAHL on the prevalence of specific movement disorder in syndromic autism associated with specific genetic syndromes identified 16 papers, all relating to Angelman syndrome or Rett syndrome. Prevalence rates of 72.7-100% and 25.0-27.3% were reported for ataxia and tremor, respectively, in Angelman syndrome. In Rett syndrome, prevalence rates of 43.6-50% were reported for ataxia and 27.3-48.3% fo...
Source: Journal of Autism and Developmental Disorders - Category: Psychiatry Authors: Tags: J Autism Dev Disord Source Type: research
Although the application of noninvasive brain stimulation methods to children and adolescents has been frequently studied in depression, autism spectrum disorder, attention-deficit/hyperactivity disorder, and other neuropsychiatric disorders, invasive methods such as deep brain stimulation (DBS) and vagal nerve stimulation (VNS) have received less attention. DBS and VNS have demonstrated utility in young patients especially for dystonia and epilepsy. VNS has FDA clearance for intractable epilepsy in patients aged 4  years and older. Further measured work with invasive neuromodulation for children and adolescents with ...
Source: The Psychiatric Clinics of North America - Category: Psychiatry Authors: Source Type: research
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