Publications by authors named "Marcelo M Aragao"
Article Synopsis
- Congenital ataxias are rare genetic disorders that typically show nonprogressive symptoms such as hypotonia and motor delays in early life, often misdiagnosed as cerebral palsy.
- A study analyzed 30 Brazilian patients with congenital ataxia, revealing a variety of genetic variants in 18 genes, with 46.7% having pathogenic variants and 33.3% showing uncertain significance.
- Whole-exome sequencing proved valuable for diagnosis, particularly in patients with cerebellar-plus syndrome, emphasizing the genetic diversity and complex inheritance patterns of these conditions.
