L1 SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About L1 Syndrome
L1 syndrome describes a group of conditions that primarily affect the nervous system and occur almost exclusively in males. These conditions vary in severity and include, from most severe to least, X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.
L1 syndrome is caused by mutations in the L1CAM gene. The L1CAM gene provides instructions for producing the L1 cell adhesion molecule protein (shortened to L1 protein), which is found throughout the nervous system. This protein is present on the surface of nerve cells (neurons), where it attaches (binds) to proteins on neighboring neurons to help the cells stick to one another (cell-cell adhesion). The L1 protein plays a role in numerous functions of neurons that contribute to brain development, thinking ability, memory, and movement.
The prevalence of L1 syndrome overall is unknown; however, HSAS is estimated to affect 1 in 30,000 males.
This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males, who have only one X chromosome, a mutation in the only copy of the gene in each cell is sufficient to cause the condition. In females, who have two copies of the X chromosome, one altered copy of the gene in each cell can lead to less severe features of the condition or may cause no signs or symptoms at all. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Kaiser Permanente Kensington Medical Center
Karen Rabin is a primary care provider, practicing in Internal Medicine in Kensington, Maryland. Dr. Rabin is rated as an Elite provider by MediFind in the treatment of L1 Syndrome. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Acute Lymphoblastic Leukemia (ALL), L1 Syndrome, Down Syndrome, and Leukemia.
Vanderbilt Medical Group- Teleneurology
Amy Brown is a Neurologist practicing medicine in Nashville, Tennessee. Dr. Brown is rated as an Advanced provider by MediFind in the treatment of L1 Syndrome. She is also highly rated in 35 other conditions, according to our data. Her clinical expertise encompasses Movement Disorders, Parkinson's Disease, Hereditary Ataxia, and Mcleod Neuroacanthocytosis Syndrome. Dr. Brown is board certified in .
Reading Hospital
Mohammad Khoshnoodi is a Neurologist practicing medicine in West Reading, Pennsylvania. Dr. Khoshnoodi is rated as an Experienced provider by MediFind in the treatment of L1 Syndrome. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Peripheral Neuropathy, Chronic Polyradiculoneuritis, Guillain-Barre Syndrome, and Miller-Fisher Syndrome. Dr. Khoshnoodi is board certified in American Board Of Psychiatry And Neurology.
Published Date: June 10, 2021
Published By: National Institutes of Health