Ataxia-Pancytopenia SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Ataxia-Pancytopenia Syndrome
View Main Condition: Movement Disorders
Ataxia-pancytopenia syndrome is a rare condition that affects the part of the brain that coordinates movement (the cerebellum) and blood-forming cells in the bone marrow. The age when signs and symptoms begin, the severity of the condition, and the rate at which it worsens all vary among affected individuals.
Ataxia-pancytopenia syndrome is caused by inherited mutations in the SAMD9L gene. The protein produced from this gene is involved in regulating the growth and division (proliferation) and maturation (differentiation) of cells, particularly cells in the bone marrow that give rise to blood cells. Studies suggest that the SAMD9L protein acts as a tumor suppressor, keeping cells from growing and dividing too rapidly or in an uncontrolled way. The SAMD9L protein also appears to play an important role in the brain, particularly the cerebellum, although less is known about the protein's function there.
Ataxia-pancytopenia syndrome appears to be very rare. At least 25 affected individuals from four families have been described in the medical literature.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In all reported cases, an affected person has had one parent with the condition.
Vince Lombardi Cancer Clinic
Timothy Goggins is a Hematologist and an Oncologist practicing medicine in Germantown, Wisconsin. Dr. Goggins is rated as an Advanced provider by MediFind in the treatment of Ataxia-Pancytopenia Syndrome. He is also highly rated in 38 other conditions, according to our data. His clinical expertise encompasses Non-Hodgkin Lymphoma, Colorectal Cancer, Familial Colorectal Cancer, and Testicular Yolk Sac Tumor. Dr. Goggins is board certified in American Board Of Internal Medicine, Hematology.
Tennessee Oncology, PLLC
Jamal Maatouk is an Oncologist practicing medicine in Johnson City, Tennessee. Dr. Maatouk is rated as an Experienced provider by MediFind in the treatment of Ataxia-Pancytopenia Syndrome. She is also highly rated in 35 other conditions, according to our data. Her clinical expertise encompasses Thrombocytopenia, Paget Disease of the Breast, Adult Immune Thrombocytopenia, and Hemangioma Thrombocytopenia Syndrome. Dr. Maatouk is board certified in American Board Of Internal Medicine.
Atrium Health Levine Children’s Cancer & Blood Disorders, A Facility Of Carolinas Medical Center
David Gass is a Hematologist and an Oncologist practicing medicine in Charlotte, North Carolina. Dr. Gass is rated as an Experienced provider by MediFind in the treatment of Ataxia-Pancytopenia Syndrome. His clinical expertise encompasses Diffuse Midline Glioma H3 K27M-Mutant, Infantile Neutropenia, Brain Stem Cancer, and Glioma. Dr. Gass is board certified in American Board Of Pediatrics. Dr. Gass is currently accepting new patients.
Published Date: September 01, 2017
Published By: National Institutes of Health