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
The stress granule protein G3BP1 alleviates spinocerebellar ataxia-associated deficits
Sign Up to like & getrecommendations! Published in 2022 at "Brain"
DOI: 10.1093/brain/awac473
Abstract: Abstract Polyglutamine diseases are a group of neurodegenerative disorders caused by an abnormal expansion of CAG repeat tracts in the codifying regions of nine, otherwise unrelated, genes. While the protein products of these genes are… read more here.
Keywords: stress; protein g3bp1; g3bp1; polyglutamine ... See more keywords
On the distribution of intranuclear and cytoplasmic aggregates in the brainstem of patients with spinocerebellar ataxia type 2 and 3
Sign Up to like & getrecommendations! Published in 2017 at "Brain Pathology"
DOI: 10.1111/bpa.12412
Abstract: The polyglutamine (polyQ) diseases are a group of genetically and clinically heterogeneous neurodegenerative diseases, characterized by the expansion of polyQ sequences in unrelated disease proteins, which form different types of neuronal aggregates. The aim of… read more here.
Keywords: ataxia type; spinocerebellar ataxia; sca2 sca3; aggregates brainstem ... See more keywords