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.
Ali-reza Golshayan is a Hematologist and an Oncologist in Gastonia, North Carolina. Dr. Golshayan is rated as a Distinguished doctor by MediFind in the treatment of Ataxia-Pancytopenia Syndrome. He is also highly rated in 37 other conditions, according to our data. His top areas of expertise are Fanconi Anemia, Shwachman-Diamond Syndrome, Ataxia-Pancytopenia Syndrome, and Pure Red Cell Aplasia. He is licensed to treat patients in North Carolina. Dr. Golshayan is currently accepting new patients.
Kathryn Moore is a Hematologist Oncology doctor in St. Louis Park, Minnesota. Dr. Moore has been practicing medicine for over 17 years and is rated as a Distinguished doctor by MediFind in the treatment of Ataxia-Pancytopenia Syndrome. She is also highly rated in 26 other conditions, according to our data. Her top areas of expertise are Shwachman-Diamond Syndrome, Ataxia-Pancytopenia Syndrome, Fanconi Anemia, and Pure Red Cell Aplasia. She is licensed to treat patients in Oregon and Illinois. Dr. Moore is currently accepting new patients.
Larry Cripe is a Hematologist Oncology specialist and a Palliative Medicine doctor in Indianapolis, Indiana. Dr. Cripe has been practicing medicine for over 38 years and is rated as a Distinguished doctor by MediFind in the treatment of Ataxia-Pancytopenia Syndrome. He is also highly rated in 25 other conditions, according to our data. His top areas of expertise are Acute Myeloid Leukemia, Acute Myeloblastic Leukemia without Maturation, Acute Myeloblastic Leukemia with Maturation, and Fanconi Anemia. He is licensed to treat patients in Indiana. Dr. Cripe is currently accepting new patients.
Published Date:updated Last, September
Published By: National Institutes of Health
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