Ataxia-Pancytopenia Syndrome Overview
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.
Duke Health Integrated Practice Inc
Carlos Decastro is a Hematologist Oncology specialist and a Hematologist in Durham, North Carolina. Dr. Decastro and is rated as an Advanced provider by MediFind in the treatment of Ataxia-Pancytopenia Syndrome. His top areas of expertise are Paroxysmal Nocturnal Hemoglobinuria (PNH), Aplastic Anemia, Acute Myeloid Leukemia (AML), Acute Myeloblastic Leukemia without Maturation, and Bone Marrow Aspiration. Dr. Decastro is currently accepting new patients.
Prisma Health University Medical Group
Elizabeth Cull is a Hematologist Oncology specialist and a Hematologist in Easley, South Carolina. Dr. Cull and is rated as an Advanced provider by MediFind in the treatment of Ataxia-Pancytopenia Syndrome. Her top areas of expertise are Acute Myeloid Leukemia (AML), Non-Hodgkin Lymphoma, Multiple Myeloma, Bone Marrow Aspiration, and Bone Marrow Transplant. Dr. Cull is currently accepting new patients.
Temple Faculty Practice Plan Inc
Henry Fung is a Hematologist Oncology specialist and a Hematologist in Philadelphia, Pennsylvania. Dr. Fung and is rated as an Advanced provider by MediFind in the treatment of Ataxia-Pancytopenia Syndrome. His top areas of expertise are Hodgkin Lymphoma, Classical Hodgkin Lymphoma, Large-Cell Immunoblastic Lymphoma, Bone Marrow Transplant, and Bone Marrow Aspiration.
Published Date: September 01, 2017
Published By: National Institutes of Health