Huntington disease is a rare genetic disorder characterized by motor, cognitive, and psychiatric impairments. Although the typical patient has a positive family history and initially presents with chorea between ages 30 and 50 years, some patients do not have a typical presentation. Healthcare providers should know when to refer patients to neurology for testing for Huntington disease. The earlier the diagnosis is made, the earlier the patient and patient's family can receive education about the expected disease trajectory. A multidisciplinary approach is required to mitigate symptoms as the disease progresses. Although no cure exists, ongoing research is targeting genotypic abnormalities in hopes of finding a permanent treatment for Huntington disease.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1097/01.JAA.0000735740.95438.60 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Location of polyglutamine track affects pathogenic threshold of polyglutamine expansion diseases - Importance of association with the proteasome.
Biochem Biophys Res Commun
December 2024
Laboratory of Molecular Neurodegeneration, Peter the Great St Petersburg State Polytechnical University, St Petersburg, 195251, Russian Federation. Electronic address:
The expansion of glutamine residue track (polyQ) within soluble proteins (Q proteins) is responsible for nine autosomal-dominant genetic neurodegenerative disorders. These disorders develop when polyQ expansion exceeds a specific pathogenic threshold (Q) which is unique for each disease. However, the pathogenic mechanisms associated with the variability of Q within the family of Q proteins are poorly understood.
View Article and Find Full Text PDFValbenazine for the treatment of chorea associated with Huntington's disease.
Expert Opin Pharmacother
December 2024
Department of Neurology, UTHealth Houston McGovern Medical School, Houston, TX, USA.
Introduction: Chorea is a motor manifestation of Huntington's disease (HD), which can lead to decreased functional independence and falls. Even though multiple classes of medications have been used to treat this symptom, only the vesicular monoamine transporter 2 (VMAT2) inhibitors tetrabenazine, deutetrabenazine, and valbenazine have been approved by the FDA for this indication.
Areas Covered: This article reviews the pharmacological properties, clinical efficacy, safety, and tolerability of valbenazine in the treatment of chorea in HD.
Biodistribution and dosimetry of the PET radioligand [F]CHDI-650 in mice for detection of mutant huntingtin aggregates.
EJNMMI Res
December 2024
μNEURO Research Centre of Excellence, Universiteitsplein 1, University of Antwerp, Antwerp, Belgium.
Background: Huntington's disease (HD) is a rare neurodegenerative disorder caused by an expansion of the CAG trinucleotide repeat in the huntingtin gene which encodes the mutant huntingtin protein (mHTT) that is associated with HD-related neuropathophysiology. Noninvasive visualization of mHTT aggregates in the brain, with positron emission tomography (PET), will allow to reliably evaluate the efficacy of therapeutic interventions in HD. This study aimed to assess the radiation burden of [F]CHDI-650, a novel fluorinated mHTT radioligand, in humans based on both in vivo and ex vivo biodistribution in mice and subsequent determination of dosimetry for dosing in humans.
View Article and Find Full Text PDFImpact of Mast Cell Activation on Neurodegeneration: A Potential Role for Gut-Brain Axis and Infection.
Neurol Int
December 2024
Second Medical Clinic, School of Medicine, Ippokration Hospital, Aristotle University of Thessaloniki, 54642 Thessaloniki, Greece.
Background: The innate immune response aims to prevent pathogens from entering the organism and/or to facilitate pathogen clearance. Innate immune cells, such as macrophages, mast cells (MCs), natural killer cells and neutrophils, bear pattern recognition receptors and are thus able to recognize common molecular patterns, such as pathogen-associated molecular patterns (PAMPs), and damage-associated molecular patterns (DAMPs), the later occurring in the context of neuroinflammation. An inflammatory component in the pathology of otherwise "primary cerebrovascular and neurodegenerative" disease has recently been recognized and targeted as a means of therapeutic intervention.
View Article and Find Full Text PDFSciadopitysin from as a potential therapeutic agent for Huntington's disease.
Nat Prod Res
December 2024
Department of Cariology, Saveetha Dental College and Hospital, Saveetha Institute of Medical and Technical Sciences, Saveetha University, Chennai, India.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!