The aim of this study is to analyze dysphagic symptoms of a patient with Huntington's disease (HD) who had having difficulty in swallowing. The patient was a 66-year-old female with HD. Inspection of self-feeding at bedside and videofluorographic swallowing assessment were performed. The features at self-feeding were the tendency of rapid eating, inability for smooth transportation of food to oral cavity, weak lip closure, which resulted in falling of food and eating it again. The videofluorography indicated clumsy tongue movement and postural instability by chorea which caused discoordination between oral and pharyngeal stage. Those ended in spill of liquid to the pharynx and retention of bolus in the oral cavity and vallecula, and aspiration did not occur. Pudding was carefully chewed because of the patient's alertness to the examination. The cognitive disturbance and choreic movement caused dysphagia at the preparatory and oral stages, and chorea also produced the discoordication between the oral and pharyngeal stage. The change of the shape of cups and stable posture were advised to lessen the chance of her aspiration.
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http://dx.doi.org/10.1016/j.anl.2003.11.001 | DOI Listing |
CNS Drugs
January 2025
Innovative Medicines and Global Clinical Development, Teva Branded Pharmaceutical Products R&D, Inc., West Chester, PA, USA.
Background: Huntington disease (HD) is a progressive neurodegenerative disease that causes psychiatric and neurological symptoms, including involuntary and irregular muscle movements (chorea). Chorea can disrupt activities of daily living, pose safety issues, and may lead to social withdrawal. The vesicular monoamine transporter 2 inhibitors tetrabenazine, deutetrabenazine, and valbenazine are approved treatments that can reduce chorea.
View Article and Find Full Text PDFNat Med
January 2025
Huntington's Disease Centre, Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London, UK.
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease with the age at which characteristic symptoms manifest strongly influenced by inherited HTT CAG length. Somatic CAG expansion occurs throughout life and understanding the impact of somatic expansion on neurodegeneration is key to developing therapeutic targets. In 57 HD gene expanded (HDGE) individuals, ~23 years before their predicted clinical motor diagnosis, no significant decline in clinical, cognitive or neuropsychiatric function was observed over 4.
View Article and Find Full Text PDFNat Commun
January 2025
Center for Biomolecular and Cellular Structure, Institute for Basic Science (IBS), Daejeon, Republic of Korea.
Toxic protein aggregates are associated with various neurodegenerative diseases, including Huntington's disease (HD). Since no current treatment delays the progression of HD, we develop a mechanistic approach to prevent mutant huntingtin (mHttex1) aggregation. Here, we engineer the ATP-independent cytosolic chaperone PEX19, which targets peroxisomal membrane proteins to peroxisomes, to remove mHttex1 aggregates.
View Article and Find Full Text PDFProg Mol Biol Transl Sci
January 2025
Genetics & Developmental Biology Laboratory, Department of Biotechnology & Bioengineering, Institute of Advanced Research, Gandhinagar, Gujarat, India. Electronic address:
Different neurological diseases including, Parkinson's, Alzheimer's, and Huntington's diseases extant momentous global disease burdens, affecting millions of lives for imposing a heavy disease burden on the healthcare systems. Despite various treatment strategies aimed at alleviating symptoms, treatments remain elusive and ineffective due to the disease's complexity. However, recent advancements in gene therapy via the CRISPR-Cas system offer ground-breaking and targeted treatment options.
View Article and Find Full Text PDFCell
January 2025
Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA; Program in Neuroscience, Harvard Medical School, Boston, MA 02215, USA; Howard Hughes Medical Institute, Boston, MA 02215, USA. Electronic address:
In Huntington's disease (HD), striatal projection neurons (SPNs) degenerate during midlife; the core biological question involves how the disease-causing DNA repeat (CAG) in the huntingtin (HTT) gene leads to neurodegeneration after decades of biological latency. We developed a single-cell method for measuring this repeat's length alongside genome-wide RNA expression. We found that the HTT CAG repeat expands somatically from 40-45 to 100-500+ CAGs in SPNs.
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