AANS Neurosurgeon | Volume 26, Number 3, 2017

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Newly Discovered Brain Mechanism Could Change Understanding of Cognitive Diseases From ADHD to Autism

Gene defects in Key Brain Region Behind Distractibility Across Illnesses

Nearly one in six American children are affected by Autism, ADHD and related disabilities. This large number warrants new research including a new study that is providing evidence that a gene called PTCHD1 is responsible for helping the brain sort through sights, sounds and distractions. The PTCHD1 gene is active in the region of the brain that pays more attention to a conversation with your boss than to the buzzing of an air conditioner in the background of the same room. “To our knowledge, this is the first study to detail the biology behind thalamic dysfunction in cognitive disorders caused by PTCHD1 defects in the mammalian brain,” says study senior investigator Micheal Halassa, MD, PhD, an assistant professor at the Neuroscience institute at NYU Langone. “We believe that this work defines a new disease category based on common biological signatures surrounding the ‘leaky thalamus’ and based on a dysfunctional TRN. The field may need to rethink disease definitions to yield more precise treatments.” To read more, click here.

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