Novel Imaging and Clinical Features of CONDSIAS (2020)

This case study described a child with a newly found frameshift mutation in the ADPRHL2 gene. Doctors used MRI scans to track unique brain changes over time, helping improve diagnosis and giving families more information about what to expect as the disease progresses.

Expanding the Spectrum of CONDSIAS (2024)

Doctors reported on a young woman living with CONDSIAS who showed some new and unexpected symptoms. This study helps expand the “map” of what CONDSIAS can look like, so doctors can recognize and diagnose it earlier. It also suggests possible future treatments, like using PARP inhibitors.

Clinical & Genetic Study in Two Brothers (2024)

Two brothers with CONDSIAS were studied in depth, from their symptoms to their brain tissue and genetic tests. The study showed how the same rare gene changes can affect children differently, even in the same family. This research is helping scientists understand how the disease develops over time.

ADPRS Variant Disrupts ARH3 Stability (2024)

Researchers found that a specific genetic variant weakens the stability of the ARH3 protein, which is essential for healthy brain function. This finding explains part of why children with CONDSIAS develop seizures and movement problems, and it gives scientists a new target for drug development.

Novel ADPRHL2 Variant Identified (2023–2024)

A new genetic mutation in the ADPRHL2 gene (the cause of CONDSIAS) was discovered in a child. By studying this change, scientists learned more about how the ARH3 protein works and how its failure leads to brain cell stress and degeneration. Each new mutation adds to the global understanding of this rare disease.