Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10826283 | PMC |
| http://dx.doi.org/10.1007/s00415-023-11786-z | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The 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.
Repeat-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.
View Article and Find Full Text PDFDigital Outcomes of Upper Limb Ataxia Capture Meaningful Longitudinal Change and Treatment Response.
Mov Disord
September 2025
Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.
Background: Digital-motor outcomes promise better responsiveness than clinician-reported outcomes in ataxia trials. However, their patient meaningfulness and sensitivity to change remain to be demonstrated, particularly in the upper limb domain.
Objectives: Validation of quantitative motor (Q-Motor) assessment for upper limb ataxia against patient-reported outcomes and regarding sensitivity to both longitudinal and treatment-induced change, the latter in n-of-1 treatment settings.
Video-Based Data-Driven Models for Diagnosing Movement Disorders: Review and Future Directions.
Mov Disord
August 2025
Department of Neurology, University of Groningen, University Medical Centre Groningen (UMCG), Groningen, The Netherlands.
Movement disorders are abnormal, involuntary movements that can heavily impact a person's quality of life. In clinical practice, diagnosis and severity assessments rely mainly on visual clinical inspections (ie, on subjective expert opinion). With clinical videos commonly acquired as part of examinations, novel data-driven models have emerged that use machine learning (ML) and deep learning (DL) algorithms to capture human actions and recognize their characteristics, showing promise as new tools in clinical workflows.
View Article and Find Full Text PDFPredictive clinical factors for the progression from idiopathic late-onset cerebellar ataxia to multiple system atrophy cerebellar type.
J Neurol
August 2025
Department of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea.
Objectives: Patients initially diagnosed with idiopathic late-onset cerebellar ataxia (ILOCA) may develop multiple system atrophy cerebellar type (MSA-C). However, data on conversion time, associated clinical factors, and the role of the neurofilament light chain (NFL) in this process remain limited. This study aims to investigate the conversion from ILOCA to MSA-C and examine the associated factors and the predictive value of NFL.
View Article and Find Full Text PDF