Publications by authors named "S Boesch"
Article Synopsis
- The release of Genome Aggregation Database (gnomAD) v4 significantly increases sample size, impacting the interpretation of genetic variants, particularly in dystonia.
- A comparison of variants linked to common forms of isolated dystonia showed that most (77.7%) remained absent in the new version; however, some well-known pathogenic variants were newly recorded in v4.
- Despite finding more dystonia-related alleles in gnomAD v4, the authors stress that the presence of these variants in population data doesn't automatically mean they aren't pathogenic.
Objective: Spinocerebellar ataxia type 2 (SCA2) is a rare, inherited neurodegenerative disease characterised by progressive deterioration in both motor coordination and cognitive function. Atrophy of the cerebellum, brainstem, and spinal cord are core features of SCA2, however the evolution and pattern of whole-brain atrophy in SCA2 remain unclear. We undertook a multi-site, structural magnetic resonance imaging (MRI) study to comprehensively characterize the neurodegeneration profile of SCA2.
View Article and Find Full Text PDFFriedreich Ataxia (FRDA) is an inherited neuromuscular disorder triggered by a deficit of the mitochondrial protein frataxin. At a cellular level, frataxin deficiency results in insufficient iron-sulfur cluster biosynthesis and impaired mitochondrial function and adenosine triphosphate production. The main clinical manifestation is a progressive balance and coordination disorder which depends on the involvement of peripheral and central sensory pathways as well as of the cerebellum.
View Article and Find Full Text PDFArticle Synopsis
- A large-scale genome-wide association study (GWAS) was conducted with over 6000 participants to investigate genetic risk factors for isolated dystonia, aiming to improve upon earlier studies that found no significant genetic links.
- The study included 4303 dystonia patients and 2362 healthy controls, analyzing various factors like age of onset and affected body areas, but ultimately failed to identify any common genetic variants associated with dystonia.
- The findings suggest that isolated dystonia may not be influenced by common genetic variations, highlighting the need for more extensive studies like whole-genome sequencing to uncover potential genetic contributions.
Article Synopsis
- Non-polyglutamine CACNA1A variants are linked to a diverse range of symptoms including developmental delay, migraines, epilepsy, psychiatric issues, and chronic cerebellar signs, with most patients showing symptoms from childhood.
- In a study over 20 years, 41 patients were monitored, revealing that 66% required interval therapy, which effectively managed their episodic symptoms.
- The findings suggest that non-polyglutamine CACNA1A disease presents differently as patients age, and that targeted prophylaxis can significantly alleviate their symptoms.