Study unveils new genetic syndrome linking brain development and neurodegeneration

Researchers from the University of Antioquia have identified a new genetic syndrome that bridges the gap between neurodevelopmental disorders and neurodegenerative diseases. The study, published in Genomic Psychiatry, details a homozygous mutation in the SPAG9 gene that leads to a complex neurological phenotype characterized by intellectual disability, speech delays, and progressive cognitive decline.

This article was originally published on MedicalXpress.com

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