Brain glucose metabolism was measured in two children with early-onset Huntington's disease, using positron emission tomography with fluorodeoxyglucose (FDG) as the tracer. A marked (48%) hypometabolism was found at the level of the caudate nuclei, but other areas of the brain, particularly the cerebral cortex, were not significantly affected. Despite its different clinical presentation, Huntington's disease in children is characterized by brain metabolic alterations similar to those found in adult patients.
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http://dx.doi.org/10.1016/s0387-7604(88)80046-9 | DOI Listing |
ACS Pharmacol Transl Sci
January 2025
Department of Pharmacology and Toxicology, Faculty of Pharmacy, Cairo University, Cairo, Egypt.
Sigma 1 receptor (S1R) is a multifunctional, ligand-activated protein located in the membranes of the endoplasmic reticulum (ER). It mediates a variety of neurological disorders, including epilepsy, amyotrophic lateral sclerosis, Alzheimer's disease, Huntington's disease. The wide neuroprotective effects of S1R agonists are achieved by a variety of pro-survival and antiapoptotic S1R-mediated signaling functions.
View Article and Find Full Text PDFBrain Commun
January 2025
Department of Neurology, Memory and Aging Center, University of California, San Francisco, CA 94158, USA.
The largest risk factor for dementia is age. Heterochronic blood exchange studies have uncovered age-related blood factors that demonstrate 'pro-aging' or 'pro-youthful' effects on the mouse brain. The clinical relevance and combined effects of these factors for humans is unclear.
View Article and Find Full Text PDFNeurol Ther
January 2025
Health Economics and Outcomes Research, Neurocrine Biosciences, Inc., 12780 El Camino Real, San Diego, CA, 92130, USA.
Introduction: Chorea is the primary manifestation of Huntington's disease. Different clinicians pursue varied approaches to chorea management, and real-world evidence describing them is needed. The objective of this study was to assess the presence and severity of chorea, chorea pharmacotherapy, and treatment practice, and patterns in a large natural-history cohort with Huntington's disease.
View Article and Find Full Text PDFJ Speech Lang Hear Res
January 2025
Department of Hearing and Speech Sciences, Vanderbilt University Medical Center, Nashville, TN.
Purpose: To advance our understanding of disease-specific articulatory impairment patterns in speakers with dysarthria, this study investigated the articulatory performance of the tongue and jaw in speakers with differing neurological diseases (Parkinson's disease [PD], amyotrophic lateral sclerosis, multiple sclerosis, and Huntington's disease).
Method: Fifty-seven speakers with dysarthria and 30 controls produced the sentence "Buy Kaia a kite" five times. A three-dimensional electromagnetic articulography was used to record the articulatory movements of the posterior tongue and jaw.
J Neurol
January 2025
Center for Health + Technology, University of Rochester Medical Center, Rochester, NY, USA.
Background: Longitudinal qualitative data on what matters to people with Parkinson's disease are lacking and needed to guide patient-centered clinical care and development of outcome measures.
Objective: To evaluate change over time in symptoms, impacts, and relevance of digital measures to monitor disease progression in early Parkinson's.
Methods: In-depth, online symptom mapping interviews were conducted with 33 people with early Parkinson's at baseline and 1 year later to evaluate (A) symptoms, (B) impacts, and (C) relevance of digital measures to monitor personally relevant symptoms.
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