Correspondence on “Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment” by Roux et al.
Sign Up to like & getrecommendations! Published in 2021 at "Genetics in Medicine"
DOI: 10.1038/s41436-021-01104-1
Abstract: With great interest, we read the publication by Roux et al. about the occurrence of STUB1 variants in mostly dominant cerebellar ataxias. We here provide data on heterozygous STUB1 variants observed in 46 patients in… read more here.
Keywords: cause; stub1; age; ataxia patients ... See more keywords
Nutritional status and eating habits of patients with hereditary ataxias: a case-control study.
Sign Up to like & getrecommendations! Published in 2022 at "Nutritional neuroscience"
DOI: 10.1080/1028415x.2022.2088942
Abstract: INTRODUCTION Hereditary Ataxias (HAs) comprise a wide spectrum of genetically determined neurodegenerative diseases with progressive ataxia as the main symptom. Few studies have evaluated nutritional profile in HA patients and most of these focused on… read more here.
Keywords: nutritional status; hereditary ataxia; ataxia patients; hereditary ataxias ... See more keywords
Eye-tracking-aided characterization of saccades and antisaccades in SYNE1 ataxia patients: a pilot study
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DOI: 10.1186/s12868-021-00612-9
Abstract: Background SYNE1 ataxia is an autosomal recessive hereditary condition, the main characteristic features of which are gait and limb ataxia and cerebellar dysarthria. Reports have revealed that the clinical phenotype of SYNE1 ataxia is more… read more here.
Keywords: ataxia patients; ataxia; study; syne1 ataxia ... See more keywords
Pharmacokinetics and pharmacodynamics of the novel Nrf2 activator omaveloxolone in primates
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DOI: 10.2147/dddt.s193889
Abstract: Background Omaveloxolone is a synthetic oleanane triterpenoid that pharmacologically activates Nrf2, a master transcription factor that regulates genes with antioxidative, anti-inflammatory, and mitochondrial bioenergetic properties, and is being evaluated in patients with Friedreich’s ataxia. Methods… read more here.
Keywords: omaveloxolone; friedreich ataxia; ataxia patients; oral administration ... See more keywords