Altered Cerebrospinal Fluid Proteins in Smith-Lemli-Opitz Syndrome.

Summary: Smith-Lemli-Opitz Syndrome (SLOS) is a rare genetic condition that affects how the brain and body grow. It happens when a person's body cannot properly make cholesterol due to a specific gene mutation. In this study, scientists looked at the cerebrospinal fluid—the clear liquid that surrounds and protects the brain and spinal cord. They discovered that people with SLOS have abnormal levels of certain proteins in this fluid. By identifying these altered proteins, doctors can better understand exactly how this disease damages the brain, which may eventually lead to new and better treatments.