Ataxia severity, cerebellar hemispheric blood flow (CHBF), ascorbate free radical (AFR), superoxide dismutase protein, superoxide scavenging activity, and 8-hydroxy-2'-deoxyguanosine (8-OHdG) in cerebrospinal fluid (CSF) were compared before and after an 8-week course of repetitive transcranial magnetic stimulation (rTMS) in 20 patients with spinocerebellar degenerations (SCD). SCD patients showed higher AFR, 8-OHdG, and superoxide scavenging activity than 19 controls. In SCD patients, AFR and ataxia severity declined, and CHBF increased after rTMS. As the SCD patients showed negative correlations between ataxia severity and CHBF or superoxide scavenging activity, the therapeutic mechanism of rTMS may involve decreased oxidative stress and increased CHBF.
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http://dx.doi.org/10.1179/016164105X39897 | DOI Listing |
CNS Neurosci Ther
December 2024
7T Magnetic Resonance Imaging Translational Medical Center, Department of Radiology, Southwest Hospital, Army Medical University (Third Military Medical University), Chongqing, China.
Aims: The aim of this study was to investigate the whole-brain asymmetry changes in spinocerebellar ataxia type 3 (SCA3) and their association with movement disorders.
Methods: Voxel-based morphometry (VBM) was used to assess asymmetry in gray matter (GM) volume in 83 genetically confirmed SCA3 patients and 83 sex- and age-matched healthy controls (HCs). The asymmetry index (AI) was analyzed for partial correlation with disease severity, as measured by the Scale for Assessment and Rating of Ataxia (SARA) and International Cooperative Ataxia Rating Scale (ICARS).
Clin Neurophysiol
December 2024
Department of Clinical Neurophysiology, Vall d'Hebron University Hospital, Passeig de la Vall d'Hebron, 119, 08035 Barcelona, Spain. Electronic address:
Introduction/objective: Biallelic expansion of the pentanucleotide AAGGG in the RFC1- gene is associated with cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). This study aimed to comprehensively characterise this condition by conducting an in-depth neurophysiological examination of afflicted patients.
Methods: A retrospective analysis was conducted in 31 RFC1-positive patients.
Neurol Clin Pract
February 2025
University of Rochester School of Medicine and Dentistry (JS, AV); Center for Health and Technology (CHeT) (JS, JW, AV, SJR, CE, AA, CZ, CRH), University of Rochester; University of Utah Spencer Fox Eccles School of Medicine (SJR); Des Moines University College of Osteopathic Medicine (AA); Department of Biostatistics and Neurology (ND), University of Rochester; Alzheimer's Disease Care, Research and Education Program (AD-CARE) (AM, SS-S, EJS), University of Rochester; and Department of Neurology (CRH), University of Rochester.
Background And Objectives: In preparation for future clinical trials involving individuals with Alzheimer disease (AD), mild cognitive impairment (MCI), and dementia, it is important to ascertain the widespread impact of symptoms from the direct perspectives of patients and caregivers. In this study, we performed cross-sectional surveys using large-scale patient and caregiver data to identify the prevalence and average impact of symptoms and symptomatic themes experienced by adults with AD, MCI, and dementia. Subsequent analyses were used to determine which demographic and disease-specific factors are associated with more severe disease.
View Article and Find Full Text PDFPacing Clin Electrophysiol
December 2024
Department of Cardiology, Dr. Siyami Ersek Thoracic and Cardiovascular Surgery Training and Research Hospital, Istanbul, Turkey.
This case report presents the management of tachycardiomyopathy (TCM) in a patient with Friedreich ataxia, a hereditary disorder characterized by progressive neurodegeneration and associated cardiac complications. The patient exhibited severe tachycardia-induced cardiac dysfunction, complicating the clinical picture due to the overlapping neurological symptoms of Friedreich ataxia. Utilizing a 3D mapping system, catheter ablation was performed to accurately identify and target the arrhythmogenic foci contributing to the patient's TCM.
View Article and Find Full Text PDFPLoS Genet
December 2024
Department of Molecular Genetics, Weizmann Institute of Science, Rehovot, Israel.
Background: The development and diversification of sensory proprioceptive neurons, which reside in the dorsal root ganglia (DRG) and express the tropomyosin receptor kinase C (TrkC), depend on the transcription factor (TF) Runx3. Runx3-deficient mice develop severe limb ataxia due to TrkC neuron cell death. Two additional TFs Pou4f1 (also called Brn3a) and Isl1 also play an important role in sensory neuron development.
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