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.
Duke Cancer Center
Carlos De Castro Iii is a Hematologist Oncology specialist and a Hematologist practicing medicine in Durham, North Carolina. Dr. De Castro Iii is rated as an Advanced provider by MediFind in the treatment of Ataxia-Pancytopenia Syndrome. He is also highly rated in 45 other conditions, according to our data. His clinical expertise encompasses Paroxysmal Nocturnal Hemoglobinuria (PNH), Aplastic Anemia, Acute Myeloid Leukemia (AML), Acute Myeloblastic Leukemia without Maturation, and Bone Marrow Aspiration. Dr. De Castro Iii is board certified in American Board Of Internal Med, Internal Medicine. Dr. De Castro Iii is currently accepting new patients.
Avera Medical Group Sibley
Rachel Wilcinot is a primary care provider, practicing in Family Medicine in Sibley, Iowa. She has been practicing medicine for over 18 years. Dr. Wilcinot is rated as an Advanced provider by MediFind in the treatment of Ataxia-Pancytopenia Syndrome. She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Fanconi Anemia, Ataxia-Pancytopenia Syndrome, Shwachman-Diamond Syndrome, and Postmenopausal Osteoporosis. Dr. Wilcinot is board certified in American Board Of Family Medicine. Dr. Wilcinot is currently accepting new patients.
Prisma Health Cancer Institute – Eastside
Elizabeth Cull is an Oncologist and a Hematologist Oncology provider practicing medicine in Greenville, South Carolina. She has been practicing medicine for over 17 years. Dr. Cull is rated as an Advanced 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 Acute Myeloid Leukemia (AML), Non-Hodgkin Lymphoma, Multiple Myeloma, Bone Marrow Aspiration, and Bone Marrow Transplant. Dr. Cull is board certified in American Board Of Internal Medicine. Dr. Cull is currently accepting new patients.
Published Date: September 01, 2017
Published By: National Institutes of Health