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Anti-neurochondrin antibody as a biomarker in primary autoimmune cerebellar ataxia-a case report and review of the literature.
Eur J Neurol
April 2023
Department of Neurology, Inselspital, Bern University Hospital and University of Bern, Bern, Switzerland.
Article Synopsis
- Neuronal autoantibodies, specifically anti-neurochondrin antibodies, play a crucial role in diagnosing primary autoimmune cerebellar ataxia (PACA), a condition that still lacks extensive knowledge and documentation.
- A case study of a 33-year-old man revealed significant symptoms including gait imbalance and cerebellar atrophy over time, leading to a confirmed PACA diagnosis through various tests.
- Early diagnosis and treatment with immunotherapy showed positive outcomes, suggesting that PACA cases associated with anti-neurochondrin antibodies may be underreported, and recognizing them can lead to important therapeutic interventions.
How to Detect Isolated PEX10-Related Cerebellar Ataxia?
Neuropediatrics
June 2022
Department of Pediatric Neurology (emeritus), University Children's Hospital Zürich, Zürich, Switzerland.
Article Synopsis
- A 4-year-old boy exhibited cerebellar ataxia with neuroimaging showing cerebellar atrophy; metabolic tests revealed significantly elevated phytanic acid and abnormal very-long-chain fatty acid (VLCFA) ratios.
- Genetic analysis indicated biallelic variants linked to impaired peroxisomal function, with cultured fibroblasts showing both pathogenic characteristics and unique peroxisome morphology.
- Literature review identified 14 similar cases of -related cerebellar ataxia, mostly starting between ages 3-8, highlighting the importance of testing for phytanic acid and VLCFA ratios in cases of unexplained ataxia with cerebellar atrophy.
Dysphagia Affecting Quality of Life in Cerebellar Ataxia-a Large Survey.
Cerebellum
June 2020
Department of Neurology, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Charitéplatz 1, 10117, Berlin, Germany.
Dysphagia is a common symptom in neurodegenerative disorders and is generally associated with increased mortality. In the clinical care setting of ataxia patients, no systematical and standardized assessment of dysphagia is employed. Its impact on patients' health-related quality of life is not well understood.
View Article and Find Full Text PDFPredictive coding and adaptive behavior in patients with genetically determined cerebellar ataxia--A neurophysiology study.
Neuroimage Clin
September 2020
Institute of Neurogenetics, University of Lübeck, Germany. Electronic address:
Genetically determined cerebellar ataxias (CA) are a heterogeneous group of disorders with progressive decline of cerebellar functions. The cerebellum influences internal forward models that play a role in cognitive control, but whether these processes are dysfunctional in CA is unclear. Here, we examined sensory predictive coding processes and response adaptation in CA and healthy controls (HC) using behavioral tests with concomitant EEG recordings.
View Article and Find Full Text PDFAcetyl-DL-leucine improves gait variability in patients with cerebellar ataxia-a case series.
Cerebellum Ataxias
April 2016
Department of Neurology, University of Munich, Campus Großhadern, Marchioninistrasse 15, Munich, 81377 Germany ; German Center for Vertigo and Balance Disorders (DSGZ), University of Munich, Campus Großhadern, Marchioninistrasse 15, Munich, 81377 Germany.
Acetyl-DL-leucine is a modified amino acid that was observed to improve ataxic symptoms in patients with sporadic and hereditary forms of ataxia. Here, we investigated the effect of the treatment with Acetyl-DL-leucine on the walking stability of patients with cerebellar ataxia (10x SAOA, 2x MSA-C, 2x ADA, 1x CACNA-1A mutation, 2x SCA 2, 1x SCA 1). Treatment with Acetyl-DL-leucine (500 mg; 3-3-4) significantly improved the coefficient of variation of stride time in 14 out of 18 patients.
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