Publications by authors named "D Galatolo"
Biallelic mutations in the SACS gene, encoding sacsin, cause early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disease also characterized by unique and poorly understood retinal abnormalities. While two murine models replicate the phenotypic and neuronal features observed in patients, no retinal phenotype has been described so far. In a zebrafish knock-out strain that faithfully mirrors the main aspects of ARSACS, we observed impaired visual function due to photoreceptor degeneration, likely caused by cell cycle defects in progenitor cells.
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- * A specific case is presented of a 53-year-old male who experienced progressive myoclonus-ataxia and was found to have a new genetic variant (c.3835G > A) in the CACNA1G gene.
- * The study suggests that this novel variant may affect calcium channel activity and emphasizes the significance of genetic testing for understanding myoclonus-ataxia disorders.
Purpose: Spastic paraplegia, intellectual disability, nystagmus, and obesity syndrome (SINO) is a rare autosomal dominant condition caused by heterozygous variants in KIDINS220. A total of 12 individuals are reported, comprising 8 with SINO and 4 with an autosomal recessive condition attributed to biallelic KIDINS220 variants.
Methods: In our international cohort, we have included 14 individuals, carrying 13 novel pathogenic KIDINS220 variants in heterozygous form.
Article Synopsis
- ARSACS is a rare neurodegenerative disease caused by mutations in the sacsin gene that disrupts various cellular processes, and effective treatments are still being explored.
- The study used untargeted proteomics to analyze protein differences in ARSACS fibroblasts compared to normal controls, revealing insights about biochemical pathways affected by sacsin loss.
- The findings highlighted abnormal calcium levels and lipid profiles in ARSACS cells, specifically increased ceramides and decreased diacylglycerols, suggesting these factors are linked to the disease.