Ataxia-pancytopenia syndrome

Ataxia-pancytopenia syndrome is a rare autosomal dominant disorder characterized by cerebellar ataxia, peripheral neuropathies, pancytopenia and a predilection to myelodysplastic syndrome and acute myeloid leukemia.

Signs and symptoms

Genetics

This syndrome is caused by mutations in the sterile alpha motif domain containing 9-like (SAMD9L) gene. This gene is located on the long arm of chromosome 7.

Diagnosis

History

This syndrome was first described in 1981.