Genetic factors in athetoid cerebral palsy

Within the cerebral palsy syndromes, athetosis is most commonly causally as sociated with serious perinatal complications. Genetic factors are thought to play a lesser role, although the risk of recurrence in siblings has been suggested to be as high as 10%. We have conducted a clinical study of 22 s ubjects with a diagnosis of athetoid cerebral palsy and a review of the lit erature aiming to identify instances of familial recurrence of athetoid cer ebral palsy. The birth history, family history, and previous investigations of subjects with athetoid cerebral palsy were studied and subjects were cl inically examined for evidence of an underlying genetic etiology. Factors s uggesting a genetic cause were specifically sought, such as advanced patern al age, progression of symptoms, and associated congenital abnormalities. N o subjects in the study group had similarly affected relatives, and additio nal features suggesting a genetic cause were not observed. A literature sea rch identified 16 instances of familial recurrence of athetoid cerebral pal sy. Familial cases were typically associated with significant spasticity, m icrocephaly, intellectual disability, seizures, and a lack of history of bi rth asphyxia, and most could be explained by either autosomal-recessive or X-linked-recessive inheritance. The genetic contribution to athetoid cerebr al palsy is small, with an overall risk of recurrence in siblings of about 1%. This risk is lower than previously suggested in the literature.