The aim of this study is to investigate whether scores in ataxia rating scales (ARS) are different in very preterm (VP) preschool and adult participants compared to term controls. This is a case-control study. Sixty VP children (years: 5.5-6.5; gestational age: 23.9-31.7 weeks) and 56 VP adults (years: 17.8-27.9; gestational age: 23.3-32.0 weeks) without major cerebral lesions participated in the study; 60-age and sex-matched term children and 64 term adults for comparison were used in the study intervened with the assessment with International Cooperative Ataxia Rating Scale (ICARS) and Scale for Assessment and Rating of Ataxia (SARA). Main outcome measures are primary outcome: total icars and sara scores in preterm (vp) participants versus controls. Results showed that VP children showed significantly higher total ICARS (M 15.98, SD 6.29, range 4.0-32.0; p < .001) and SARA scores (M 6.5, SD 2.53, range 1.0-15.0; p < .001) than controls (ICARS: M 9.17, SD 3.88, range 2.0-20.0; SARA: M 3.51, SD 1.54, range 1.0-8.0). VP adults also showed significantly higher total ICARS (M 1.0, SD 1.99, range 0.0-11.0; p < .001) and SARA scores (M 0.54, SD 1.08, range 0.0-6.0; p < .001) than controls (ICARS: M 0.11, SD 0.44, range 0.0-2.0; SARA: M 0.04, SD 0.18, range 0.0-1.0). In conclusion, VP children showed significantly higher scores in ARS than controls. These differences were also present in VP adults, suggesting that deficits likely prevail until adulthood. ARS are a time and cost-effective method to screen for difficulties in coordination and balance in a patient group at risk.
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http://dx.doi.org/10.1007/s12311-022-01463-8 | DOI Listing |
EClinicalMedicine
December 2024
Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan.
Background: Therapeutic advancements for the polyglutamine diseases, particularly spinocerebellar degeneration, are eagerly awaited. We evaluated the safety, tolerability, and therapeutic effects of L-arginine, which inhibits the conformational change and aggregation of polyglutamine proteins, in patients with spinocerebellar ataxia type 6 (SCA6).
Methods: A multicenter, randomized, double-blind, placebo-controlled phase 2 trial (clinical trial ID: AJA030-002, registration number: jRCT2031200135) was performed on 40 genetically confirmed SCA6 patients enrolled between September 1, 2020, and September 30, 2021.
Orphanet 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 PDFParkinsonism Relat Disord
December 2024
Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY, USA. Electronic address:
Introduction: The onset of symptoms in Rapid-onset dystonia-parkinsonism (RDP) is typically over days to weeks and is often triggered by stressors like fever or childbirth. Limited information is available on how the motor and nonmotor symptoms evolve over the course of the disease. Our longitudinal study analyzed data from a cohort of RDP patients, documenting their symptoms across multiple visits.
View Article and Find Full Text PDFEur J Neurol
January 2025
School of Basic Medical Sciences, Fujian Medical University, Fuzhou, China.
Background: The regulatory role of the apolipoprotein E (APOE) ε4 allele in the clinical manifestations of spinocerebellar ataxia type 3 (SCA3) remains unclear. This study aimed to evaluate the impact of the APOE ε4 allele on cognitive and motor functions in SCA3 patients.
Methods: This study included 281 unrelated SCA3 patients and 182 controls.
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).
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