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Ocular Motor and Vestibular Profile in Spinocerebellar Ataxia Type 27B: Toward a Practical Bedside Diagnostic Framework.
Cerebellum
September 2025
Department of Neurology, The Johns Hopkins School of Medicine, Baltimore, MD, USA.
Spinocerebellar ataxia type 27B (SCA27B), caused by GAA repeat expansions in FGF14, is an increasingly recognized form of late-onset cerebellar ataxia. However, early diagnosis remains challenging due to mild or absent cerebellar motor signs and often normal brain magnetic resonance imaging (MRI). Oculovestibular abnormalities, although prevalent, are frequently overlooked and not captured by standard clinical scales such as the Scale for the Assessment and Rating of Ataxia (SARA).
View Article and Find Full Text PDFLong-Term Effects of Annual Intensive Rehabilitation in Patients with Hereditary Pure Cerebellar Ataxia: A 7-year Follow-up Study.
Cerebellum
September 2025
Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
Although intensive rehabilitation has achieved short-term benefits in patients with spinocerebellar degeneration, long-term outcomes of periodic intervention remain unclear, particularly in patients with pure spinocerebellar ataxia types 6 (SCA6) and 31 (SCA31). To investigate the longitudinal effects of annual intensive rehabilitation on ataxic symptoms and balance function in patients with pure cerebellar type SCA6 and SCA31. Seven patients with genetically confirmed SCA6 or SCA31 participated in annual 4-week intensive rehabilitation programmes.
View Article and Find Full Text PDFThe predictive validity of pontine volume change in spinocerebellar ataxia type 1 (SCA1).
Neurobiol Dis
September 2025
Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, the Netherlands. Electronic address:
Background: Pontine volume previously emerged as a sensitive MR marker to track disease progression in SCA1. To accept this marker as a surrogate clinical trial endpoint, long-term follow-up is necessary to confirm its sensitivity to change and to establish its predictive validity.
Objective: (1)Confirm the sensitivity to change in pontine volume after two years and identify predictors of volume reduction, and (2)to evaluate the predictive value of one-year changes in pontine volume on subsequent clinical progression after two years.
The Case of Spinocerebellar Ataxias in Amazonas (Northern Brazil): An Analysis of Disease Frequency from a Geographic, Historical, and Genetic-Evolutionary Perspective.
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September 2025
Human Genetics Laboratory, School of Health Sciences, University of the State of Amazonas - Avenida Carvalho Leal, 1777, Manaus, 69065-001, AM, Brazil.
The Spinocerebellar Ataxias (SCAs) are a group of hereditary neurodegenerative diseases that show a variable distribution among distinct ethnicities and geographic regions. In Brazil, a large and highly admixed country, the prevalence of SCAs has been investigated mostly in limited areas. Here we characterized the frequencies of SCA types in the state of Amazonas, as well as the geographic origin of SCA families, and compared them to the literature data available about the frequency of SCAs in other Brazilian regions.
View Article and Find Full Text PDFRepeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.
Brain
September 2025
Medical Genetics Center (MGZ) Munich, 80335 Munich, Germany.
Hereditary adult-onset ataxias are a heterogeneous group of phenotypically overlapping conditions, often caused by pathogenic expansions of short tandem repeats. Currently, 18 repeat disorders with a core phenotype of adult-onset ataxia are known. Diagnosis typically relies on sequential PCR-based methods, which are labour-intensive and lack precision.
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