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Delayed Progression of Ataxia with a Static Cerebellar Lesion- Consider SCA27B.
Cerebellum
January 2025
Department of Neurology, Donders Institute for Brain, Cognition & Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Repeat expansions in the fibroblast growth factor 14 gene (FGF14), associated with spinocerebellar ataxia type 27B (SCA27B), have emerged as a prevalent cause of previously unexplained late-onset cerebellar ataxia. Here, we present a patient with residual symptom of gait ataxia after complicated meningioma surgery, who presented with progressive symptoms of oculomotor disturbances, speech difficulties, vertigo and worsening of gait imbalance, twelve years post-resection. Neuroimaging revealed a surgical resection cavity in the dorsolateral side of the left cerebellar hemisphere, accompanied by gliosis in left cerebellar hemisphere extending into the vermis, extensive non-specific supratentorial periventricular white matter abnormalities, and mild atrophy of the cerebellar vermis.
View Article and Find Full Text PDFDevelopment of an F-labeled 5-aroylindole derivative for histone deacetylase 6 imaging in spinocerebellar ataxia.
Appl Radiat Isot
December 2024
Department of Isotope Application Research, National Atomic Research Institute, Taoyuan City, Taiwan, ROC.
Histone deacetylase 6 (HDAC6) is an enzyme crucial in epigenetic regulation and protein degradation, with implications in various cancers and neurodegenerative disorders. While HDAC6 is recognized as a promising therapeutic target for Parkinson's and Alzheimer's diseases, its involvement in spinocerebellar ataxias (SCAs) remains underexplored. Currently, there are no direct methods available for characterizing HDAC6 in the brains of living subjects.
View Article and Find Full Text PDFRegional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3.
J Neurol
December 2024
Institute for Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
Introduction: Knowledge about the distribution and frequency of the respective haplotypes on the wildtype and mutant allele is highly relevant in the context of future gene therapy clinical studies in Spinocerebellar Ataxia Type 3, the most common autosomal dominantly inherited ataxia. Single nucleotide polymorphisms associated to the disease-causing gene, ATXN3, have been determined. We wanted to investigate the frequency and regional distribution of two intragenic single nucleotide polymorphisms (SNPs) in a large European SCA3 cohort and their relation to the clinical phenotype.
View Article and Find Full Text PDFTract-specific spinal damage in SCA2, SCA3 and SCA6.
J Neurol
December 2024
Faculdade de Ciências Médicas da UNICAMP, Departamento de Neurologia da FCM/UNICAMP, Department of Neurology, Universidade Estadual de Campinas, University of Campinas, Cidade Universitária s/n Caixa Postal, 6111 Barão Geraldo, 13083970, Campinas, SP, Brasil.
Background: Spinocerebellar ataxias (SCAs) are a group of neurodegenerative disorders characterized by progressive ataxia. Although previous studies have focused on cerebral and cerebellar damage, spinal cord involvement in SCAs remains underexplored.
Objectives: This study aims to characterize spinal cord abnormalities in SCA2, SCA3, and SCA6 and to identify its phenotypic correlates.
How to distinguish spinocerebellar ataxia 27B from late onset cerebellar ataxia: insights from a case-control study.
J Neurol
December 2024
Neurology Department University Hospital of Toulouse, Clinical Investigation Center CIC 1436, Parkinson Expert Centre, NeuroToul Center of Excellence in Neurodegeneration (COEN) of Toulouse, CHU of Toulouse, Inserm, University of Toulouse 3, Toulouse, France.
Background: Spinocerebellar ataxia 27B is the most common genetic late onset cerebellar ataxia (LOCA). However, it commonly overlaps with other genetic LOCA as with the cerebellar form of multiple system atrophy (MSA-C).
Objectives: To pinpoint which clinical signs and symptoms best discriminate between FGF14 + from FGF14 - patients at symptoms' onset.
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