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Cerebellar ataxia-predominant multiple system atrophy (MSA-C) and cortical cerebellar atrophy are representative diseases of adult-onset sporadic degenerative ataxia. Both diseases are distinctly different because of α-synuclein pathology. However, it takes approximately 2 years for cerebellar ataxia to progress to concomitant severe autonomic dysfunction in patients with MSA-C. The period of only cerebellar ataxia (mono system atrophy) may extend to more than 10 years. Understanding mono system atrophy is vital for the early diagnosis and drug development for MSA. In this review, we discuss mono system atrophy focusing on the concept and natural history and the possibility of the of early diagnosis and disease-modifying therapy for MSA.
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http://dx.doi.org/10.11477/mf.1416201626 | DOI Listing |
JCI Insight
September 2025
Edinburgh Medical School: Biomedical Sciences & Euan MacDonald Centre for M, University of Edinburgh, Edinburgh, United Kingdom.
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of SMN protein. Several therapeutic approaches boosting SMN are approved for human patients, delivering remarkable improvements in lifespan and symptoms. However, emerging phenotypes, including neurodevelopmental comorbidities, are being reported in some treated SMA patients, indicative of alterations in brain development.
View Article and Find Full Text PDFLiver Int
October 2025
Hannover Medical School, Department of Diagnostic and Interventional Radiology, Hannover, Germany.
Background And Aims: We aimed to ascertain the prevalence of sarcopenia in patients with primary sclerosing cholangitis (PSC) and to assess the prognostic value as a biomarker for disease outcome.
Methods: We collected data from 224 patients (148 male, 76 female; mean age 41 years) from January 2002 to December 2021, with a confirmed diagnosis of PSC who underwent magnetic resonance imaging (MRI). Muscle mass was quantified at the level of the third lumbar vertebra by measurement of psoas muscle thickness (PMT) and total psoas muscle area (PMA).
Retin Cases Brief Rep
September 2025
Doheny Eye Institute, David Geffen School of Medicine, University of California, Los Angeles, California, USA.
Purpose: To report the examination and multimodal imaging findings of a patient with unilateral bull's eye maculopathy.
Methods: A retrospective chart review of a 77-year-old patient with unilateral bull's eye maculopathy who presented to a tertiary retinal practice was performed. The patient's history, visual acuity, examination and multimodal imaging findings over five years of follow-up were described.
Neurology
October 2025
Montreal Neurological Institute-Hospital, McGill University, Montreal, Canada.
Background And Objectives: Years before diagnosis of Parkinson disease (PD), dementia with Lewy bodies (DLB), or multiple system atrophy (MSA), mild prodromal manifestations can be detected. Longitudinal follow-up of people with prodromal synucleinopathy, particularly idiopathic/isolated REM sleep behavior disorder (iRBD), enables in-depth clinical phenotyping of early disease, which could facilitate stratification for clinical trials, provide the definition of appropriate end points, or predict phenoconversion more precisely. The aim of this study was to update and expand on previous studies assessing clinical evolution from iRBD to clinically diagnosed disease, up to 14 years before diagnosis.
View Article and Find Full Text PDFAm J Physiol Cell Physiol
September 2025
Humboldt-University zu Berlin, Berlin, Germany.
Skeletal muscle atrophy and weakness are major contributors to morbidity, prolonged recovery, and long-term disability across a wide range of diseases. Atrophy is caused by breakdown of sarcomeric proteins resulting in loss of muscle mass and strength. Molecular mechanism underlying the onset of muscle atrophy and its progression have been analysed in patients, mice, and cell culture but the complementarity of these model systems remains to be explored.
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