Mcleod Neuroacanthocytosis SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Mcleod Neuroacanthocytosis Syndrome
McLeod neuroacanthocytosis syndrome is primarily a neurological disorder that occurs almost exclusively in boys and men. This disorder affects movement in many parts of the body. People with McLeod neuroacanthocytosis syndrome also have abnormal star-shaped red blood cells (acanthocytosis). This condition is one of a group of disorders called neuroacanthocytoses that involve neurological problems and abnormal red blood cells.
Mutations in the XK gene cause McLeod neuroacanthocytosis syndrome. The XK gene provides instructions for producing the XK protein, which carries the blood antigen Kx. Blood antigens are found on the surface of red blood cells and determine blood type. The XK protein is found in various tissues, particularly the brain, muscle, and heart. The function of the XK protein is unclear; researchers believe that it might play a role in transporting substances into and out of cells. On red blood cells, the XK protein attaches to another blood group protein, the Kell protein. The function of this blood group complex is unknown.
McLeod neuroacanthocytosis syndrome is rare; approximately 150 cases have been reported worldwide.
McLeod neuroacanthocytosis syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. Rarely, females with a mutation in one copy of the XK gene can have the characteristic misshapen blood cells and movement problems associated with McLeod neuroacanthocytosis syndrome. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
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Amy Hellman is a Neurologist practicing medicine in Omaha, Nebraska. She has been practicing medicine for over 19 years. Dr. Hellman is rated as a Distinguished provider by MediFind in the treatment of Mcleod Neuroacanthocytosis Syndrome. She is also highly rated in 20 other conditions, according to our data. Her clinical expertise encompasses Drug Induced Dyskinesia, Movement Disorders, Parkinson's Disease, and Essential Tremor.
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Danielle Doggett is a Neurologist practicing medicine in Charlotte, North Carolina. Dr. Doggett is rated as an Advanced provider by MediFind in the treatment of Mcleod Neuroacanthocytosis Syndrome. She is also highly rated in 19 other conditions, according to our data. Her clinical expertise encompasses Parkinson's Disease, Movement Disorders, Essential Tremor, Drug Induced Dyskinesia, and Deep Brain Stimulation. Dr. Doggett is board certified in American Board Of Psychiatry And Neurology. Dr. Doggett is currently accepting new patients.
Kevin Peikert practices practicing medicine in Rostock, Germany. Mr. Peikert is rated as an Elite expert by MediFind in the treatment of Mcleod Neuroacanthocytosis Syndrome. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Chorea-Acanthocytosis, Mcleod Neuroacanthocytosis Syndrome, Abetalipoproteinemia, and Familial Hypobetalipoproteinemia.
Published Date: April 01, 2015
Published By: National Institutes of Health