The progression of neurodegenerative conditions can be effectively monitored and improved by using objective assessments. The conditions such as Friedreich Ataxia (FA) are clinically assessed by means of subjective measures commonly practised in clinics. Here, we propose a device capable of measuring ataxia, in the form of a `cup' capable of sensing certain kinematic parameters of interest while engaging in an activity that is closely related to daily living. In this study, the functional task of 'drinking' was utilised to diagnose participants with FA and capture features in terms of diagnosis (separation) and correlation with the clinical scales. Frequency domain analysis was incorporated enabling the classification of control subjects and FA patients to an accuracy of 88% with a correlation of 90% with the clinical scores.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1109/EMBC44109.2020.9176148 | DOI Listing |
Eur J Neurol
January 2025
Department of Neurology, RWTH Aachen University, Aachen, Germany.
Background: Friedreich ataxia is a rare neurodegenerative disorder caused by frataxin deficiency. Both underweight and overweight occur in mitochondrial disorders, each with adverse health outcomes. We investigated the longitudinal evolution of anthropometric abnormalities in Friedreich ataxia and the hypothesis that both weight loss and weight gain are associated with faster disease progression.
View Article and Find Full Text PDFHeart Rhythm
January 2025
Department of Molecular Biosciences, University of California, Davis, CA, USA; Department of Basic Sciences, California Northstate University, Elk Grove, CA. Electronic address:
Background: Friedreich's ataxia (FA) is a rare inherited neuromuscular disorder, where most patients die from lethal cardiomyopathy and arrhythmias. Mechanisms leading to arrhythmic events in FA patients are poorly understood.
Objective: This study aims to examine cardiac electrical signal propagation in mouse model of FA with severe cardiomyopathy and evaluate effects of omaveloxolone (OMAV), the first FDA-approved therapy.
bioRxiv
December 2024
Department of Pediatrics, University of Florida, Gainesville, FL.
Absence of functional acid-α-glucosidase (GAA) leads to early-onset Pompe disease with cardiorespiratory and neuromuscular failure. A novel Pompe rat model ( ) was used to test the hypothesis that neonatal gene therapy with adeno-associated virus serotype 9 (AAV9) restores cardiorespiratory neuromuscular function across the lifespan. Temporal vein administration of AAV9-DES-GAA or sham (saline) injection was done on post-natal day 1; rats were studied at 6-12 months old.
View Article and Find Full Text PDFNeurol Ther
December 2024
Patient-Reported Outcomes and Health Economics Research, Deutsches Zentrum für Neurodegenerative Erkrankungen/German Center for Neurodegenerative Diseases (DZNE), Site Rostock/Greifswald, Ellernholzstrasse 1-2, 17489, Greifswald, Germany.
Introduction: Friedreich Ataxia (FA) is a multisystem neurodegenerative disease. Affected individuals rely on mobility assistive technologies (MAT) (e.g.
View Article and Find Full Text PDFOrphanet J Rare Dis
December 2024
Discovery Research Division, Indian Council of Medical Research (ICMR) Headquarters, V. Ramalingaswami Bhawan, Ansari Nagar, P.O. Box 4911, New Delhi, 110029, India.
Background: Friedreich's ataxia (FA) is a rare genetic disorder caused by silencing of the frataxin gene (FXN), which leads to multiorgan damage. Nrf2 is a regulator of FXN, which is a modulator of oxidative stress in animals and humans. Omaveloxolone (Omav) is an Nrf2 activator and has been reported to have antioxidative potential in various disease conditions.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!