Objective: Cortical morphology was evaluated in subjects with known gene expansion for Huntington's disease and no manifest disease.
Method: Magnetic resonance imaging scans were obtained for 24 subjects with preclinical Huntington's disease and were compared to those for 24 matched healthy subjects by means of novel imaging methods to quantify aspects of cortical structure.
Results: In relation to the comparison subjects, those with preclinical Huntington's disease showed altered cortex morphology with enlargement of gyral crowns and abnormally thin sulci. These changes were manifested in global alterations of gyral and sulcal shape.
Conclusion: These findings lend support to the notion that, in addition to the degenerative process, abnormal neural development may also be an important process in the pathoetiology of Huntington's disease.
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http://dx.doi.org/10.1176/appi.ajp.2007.06081266 | DOI Listing |
Front Immunol
December 2024
Department of Neurology, University Hospital Ulm, Ulm, Germany.
Introduction: Very rarely, adult NMDAR antibody-associated encephalitis (NMDAR-E) leads to persistent cerebellar atrophy and ataxia. Transient cerebellar ataxia is common in pediatric NMDAR-E. Immune-mediated cerebellar ataxia may be associated with myelin oligodendrocyte glycoprotein (MOG), aquaporin-4 (AQP-4), kelch-like family member 11 (KLHL11), and glutamate kainate receptor subunit 2 (GluK2) antibodies, all of which may co-occur in NMDAR-E.
View Article and Find Full Text PDFACG Case Rep J
January 2025
Internal Medicine, Marshall University Medical Center, Huntington, WV.
Long-acting injectable formulation of cabotegravir/rilpivirine (CAB/RPV) is a promising novel maintenance therapy for HIV infection. However, coinfection with active hepatitis B virus (HBV) infection is a contraindication to initiating this therapy. Despite guidelines, patients with HBV immunity can still contract acute HBV infection.
View Article and Find Full Text PDFJ Mov Disord
December 2024
Department of Neurology, Seoul National University College of Medicine, Seoul Metropolitan Government-Seoul National University Boramae Medical Center, Seoul, Korea.
Objectives: The Huntington's Disease Quality of Life Battery for Carers (HDQoL-C) evaluates caregiver quality of life. This study aims to develop and validate the Korean version (K-HDQoL-C) to assess the burden on Korean caregivers of HD patients.
Methods: Nineteen HD caregivers (7 females, mean age 55.
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 PDFExpert 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.
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