Publications by authors named "E Indelicato"
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.
Friedreich 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.
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- 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.