Mutations in TDP2 result in spinocerebellar ataxia autosomal type 23 (SCAR23; OMIM 616949). This disease is typically associated with seizures of variable frequency and severity, and which may develop in early childhood or later in life and, can come and go. Another common feature of TDP2-mutated disease is poor balance/unsteady gait and lack of coordination of legs and arms, and sometimes eyes. This is known as ataxia, and is caused by developmental and or degenerative problems in a part of the brain known as the cerebellum. The ataxia may be evident during childhood, or may develop later in young adulthood, and may lead to the patient becoming wheelchair bound. Patients are often also associated with developmental delay, intellectual disability, and dysmorphic facial features. Additional clinical features in some patients include a larger or smaller than normal head of circumference (macrocephaly/microcephaly).
TDP2