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Associations between CAG repeat size, brain and spinal cord volume loss, and motor symptoms in spinocerebellar ataxia type 3: a cohort study.
Orphanet J Rare Dis
January 2025
Department of Neurology of First Affiliated Hospital, Fujian Medical University, Fuzhou, 350005, China.
Background: Spinocerebellar ataxia type 3 (SCA3) is a hereditary disease caused by abnormally expanded CAG repeats in the ATXN3 gene. The study aimed to identify potential biomarkers for assessing therapeutic efficacy by investigating the associations between expanded CAG repeat size, brain and spinal cord volume loss, and motor functions in patients with SCA3.
Methods: In this prospective, cross-observational study, we analyzed 3D T1-weighted MRIs from 92 patients with SCA3 and 42 healthy controls using voxel-based morphometry and region of interest approaches.
Genetic Homogeneity of a TDP1 Variant, c.1478A>G, as the Main Disease-Causing Variant of Spinocerebellar Ataxia With Axonal Neuropathy 1 (SCAN1) in the Middle East: A Systematic Review.
Pediatr Neurol
December 2024
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran; Neuromuscular Research Center, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:
Background: Spinocerebellar ataxia with axonal neuropathy 1 (SCAN1) is an ultrarare neurodegenerative disorder inherited in an autosomal recessive manner, mainly marked by progressive ataxia and axonal polyneuropathy. SCAN1 is mainly caused by the c.1478A>G:p.
View Article and Find Full Text PDFReliability of remote video ratings of the scale for assessment and rating of ataxia.
Parkinsonism Relat Disord
January 2025
Department of Neurology, The University of Chicago Pritzker School of Medicine, Chicago, IL, USA. Electronic address:
Introduction: The Scale for Assessment and Rating of Ataxia (SARA) is a widely used clinical rating scale in ataxia. Remote video assessments of SARA examinations are increasingly used to reduce variability through centralized ratings. Remote video assessments have a high agreement with in-person ratings, but the intra- and inter-rater reliability of remote video ratings has not been examined.
View Article and Find Full Text PDFHyperintense lesions of the middle cerebellar peduncle and beyond: a pictorial essay.
Radiol Bras
January 2025
Faculdade de Ciências Médicas da Universidade Estadual de Campinas (FCM-Unicamp), Campinas, SP, Brazil.
The middle cerebellar peduncle (MCP) is the largest afferent system of the cerebellum and consists of fibres from the cortico-ponto-cerebellar tract. Specifically, several relevant diseases can present with hyperintensity in the MCP on T2-weighted/fluid-attenuated inversion recovery (T2/FLAIR) magnetic resonance imaging sequences, including multiple sclerosis; acute disseminated encephalomyelitis; neuromyelitis optica spectrum disorder; progressive multifocal leucoencephalopathy; hepatic encephalopathy; osmotic demyelination syndrome; multiple system atrophy; fragile X-associated tremor/ataxia syndrome; megalencephalic leucoencephalopathy with subcortical cysts; spinocerebellar ataxias; hemi-pontine infarct with trans-axonal degeneration; and diffuse midline glioma with the histone H3K27M mutation. The aim of this pictorial review is to discuss the imaging findings that are relevant for the differential diagnosis of diseases presenting with MCP hyperintensity on T2/FLAIR sequences.
View Article and Find Full Text PDFStatic Posture Instability as a Sensitive Biomarker for Motor Abnormalities in Pre-ataxic Spinocerebellar Ataxia Type 3 Patients.
Mov Disord
January 2025
Department of Neurology, Fujian Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, China.
Background: Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder, with balance instability as a feature of the disease. Balance instability often manifests before the onset of obvious ataxic symptoms in patients. However, current clinical scales exhibit limited sensitivity in characterizing changes in pre-ataxic patients.
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