Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study
Sign Up to like & getrecommendations! Published in 2020 at "The Lancet Neurology"
DOI: 10.1016/s1474-4422(20)30235-0
Abstract: BACKGROUND Spinocerebellar ataxias (SCAs) are autosomal dominant neurodegenerative diseases. Our aim was to study the conversion to manifest ataxia among apparently healthy carriers of mutations associated with the most common SCAs (SCA1, SCA2, SCA3, and… read more here.
Keywords: sca1 sca2; ataxia; conversion; study ... See more keywords
Leukocyte Telomere Length Variability as a Potential Biomarker in Patients with PolyQ Diseases
Sign Up to like & getrecommendations! Published in 2022 at "Antioxidants"
DOI: 10.3390/antiox11081436
Abstract: SCA1, SCA2, and SCA3 are the most common forms of SCAs among the polyglutamine disorders, which include Huntington’s Disease (HD). We investigated the relationship between leukocyte telomere length (LTL) and the phenotype of SCA1, SCA2,… read more here.
Keywords: sca1 sca2; variability potential; telomere length; leukocyte telomere ... See more keywords
Cortical and Subcortical Brain Area Atrophy in SCA1 and SCA2 Patients in India: The Structural MRI Underpinnings and Correlative Insight Among the Atrophy and Disease Attributes
Sign Up to like & getrecommendations! Published in 2021 at "Neurology India"
DOI: 10.4103/0028-3886.329596
Abstract: Introduction: Genetically defined spinocerebellar ataxia (SCA) type 1 and 2 patients have differential clinical profile along with probable distinctive cortical and subcortical neurodegeneration. We compared the degree of brain atrophy in the two subtypes with… read more here.
Keywords: sca2 patients; sca1 sca2; sca2; atrophy ... See more keywords