Tag: Ataxia

Author: Joyce, Michelle R.; Nadkarni, Prianca A.; Kronemer, Sharif I.; Margron, Michael J.; Slapik, Mitchell B.; Morgan, Owen P.; Rosenthal, Liana S.; Onyike, Chiadi U.; Marvel, Cherie L. Description: Semi-structured interviews of patient accounts and caregiver, or informant, perspectives are a beneficial resource for patients suffering from diseases with complex symptomatology, such as cerebellar ataxia. The aim of this study was to identify, quantify, and compare the ways in which cerebellar ataxia patients’ and informants’ quality of life had changed as a result of living with ataxia. Using a semi-structured…

See more and a link to full text

Author: Clement, G.; Puisieux, S.; Pellerin, D.; Brais, B.; Bonnet, C.; Renaud, M. Description: Genetic cerebellar ataxias are still a diagnostic challenge, and yet not all of them have been identified. Very recently, in early 2023, a new cause of late-onset cerebellar ataxia (LOCA) was identified, spinocerebellar ataxia 27B (SCA27B). This is an autosomal dominant ataxia due to a GAA expansion in intron 1 of the FGF14 gene. Thanks to the many studies carried out since its discovery, it is now possible to define the clinical phenotype, its particularities, and…

See more and a link to full text