New Biomarker for Autism Discovered in Cerebrospinal Fluid

January 04, 2022

Biomarker’s Presence Could Establish a Link Between Autism and Epilepsy

Scientists from Northwestern Medicine have discovered a new biomarker for autism. Possibly more exciting, these researchers believe that the detection of this novel biomarker provides evidence of a link between autism and epilepsy, which approximately 30% to 50% of children with autism also suffer from. In their current study, the authors suggest that the brain protein CNTNAP2,  which is responsible for calming overactive brain cells, is at abnormally low levels in children with autism. When there is not enough of this important protein, the brain can become over excited, leading to seizures. Levels of CNTNAP2 can be detected in cerebrospinal fluid, which makes it a promising biomarker to diagnose autism. The level of CNTNAP2 in spinal cord fluid is an excellent proxy for the levels of the protein produced in the brain. The study’s authors feel that their new finding about CNTNAP2’s role in calming the brain in autism and epilepsy may lead to new future treatments. 

Original Article

Original Study

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