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Diagnosing Huntington's disease on the medical ward.
BMJ Case Rep
January 2025
Internal Medicine, Yale School of Medicine, New Haven, Connecticut, USA
An African American man in his early 40s with progressive gait impairment and chronic cognitive impairment initially presented to the emergency department after statements of self-harm and was hospitalised. Examination revealed notable neurological abnormalities including impaired memory recall, oral dyskinesia/choreiform movements, dystonia of the right upper extremity with drift, hyper-reflexia and spastic gait. On further evaluation, including neurology and genetics consultation and workup, a clinical diagnosis of the neurodegenerative disorder Huntington's disease (HD) was made.
View Article and Find Full Text PDFEngineering a membrane protein chaperone to ameliorate the proteotoxicity of mutant huntingtin.
Nat 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 PDFEffect of Triheptanoin on Caudate Atrophy and Motor Scores in Patients With Early-Stage Huntington Disease: A Phase II Study.
Neurology
January 2025
APHP- Salpêtrière Hospital, DMU BioGem, CNRS, INSERM, Paris Brain Institute, Sorbonne University.
Background And Objectives: Brain energy deficiency occurs at the early stage of Huntington disease (HD). Triheptanoin, a drug that targets the Krebs cycle, can restore a normal brain energetic profile in patients with HD. In this study, we aimed at assessing its efficacy on clinical and neuroimaging structural measures in HD.
View Article and Find Full Text PDFElucidation of the clinical traits of diabetic chorea through a questionnaire survey of people with diabetic chorea from 59 Japanese hospitals.
J Diabetes Investig
December 2024
Department of Diabetes and Metabolic Diseases, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.
Aims: Diabetic chorea refers to sudden involuntary movements developing in people with diabetes mellitus and is known to occur mainly in those with severe hyperglycemia. We conducted a questionnaire survey of case-reporting facilities in Japan to elucidate their clinical characteristics.
Methods: We searched the PubMed and Ichushi databases for case reports published from January 1, 2012, to December 31, 2017, using "diabetes" and "chorea" as keywords, and sent a questionnaire to the reporting institutions.
Clinical experience and treatment considerations with vesicular monoamine transport 2 inhibitors.
Ment Health Clin
December 2024
(Corresponding author) Clinical Pharmacist Specialist, Vanderbilt Specialty Pharmacy Services, Nashville, Tennessee,
Vesicular monoamine transporter 2 inhibitors (VMAT2i) are currently Food and Drug Administration-approved for the treatment of Huntington disease chorea and tardive dyskinesia. Additionally, they are often used for other hyperkinetic movement disorders in clinical practice. Due to a lack of head-to-head clinical trials, management of VMAT2i in the clinical setting may be unclear and rely on the clinical experience of the practitioner.
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