This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via ISI Web of Science (4) Citing Articles via Google Scholar Citing Articles via Scopus Google Scholar Articles by Amor, D. J. Articles by Reddihough, D. Search for Related Content PubMed PubMed Citation Articles by Amor, D. J. Articles by Reddihough, D. Pubmed/NCBI databases Medline Plus Health Information Cerebral Palsy Social Bookmarking                   What's this?

Genetic Factors in Athetoid Cerebral Palsy

Genetic Health Services Victoria, Royal Children's Hospital, Flemington Road, Parkville 3052, Australia, amord{at}cryptic.rch.unimelb.edu.au.

Jan E. Craig, FRACP

Genetic Health Services Victoria, Royal Children's Hospital, Flemington Road, Parkville 3052, Australia

Martin B. Delatycki, PhD, FRACP

Genetic Health Services Victoria, Royal Children's Hospital, Flemington Road, Parkville 3052, Australia

Dinah Reddihough, FRACP

Department of Child Development and Rehabilitation, Royal Children's Hospital, Victoria, Australia

Within the cerebral palsy syndromes, athetosis is most commonly causally associated 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 subjects with a diagnosis of athetoid cerebral palsy and a review of the literature aiming to identify instances of familial recurrence of athetoid cerebral palsy. The birth history, family history, and previous investigations of subjects with athetoid cerebral palsy were studied and subjects were clinically examined for evidence of an underlying genetic etiology. Factors suggesting a genetic cause were specifically sought, such as advanced paternal age, progression of symptoms, and associated congenital abnormalities. No subjects in the study group had similarly affected relatives, and additional features suggesting a genetic cause were not observed. A literature search identified 16 instances of familial recurrence of athetoid cerebral palsy. Familial cases were typically associated with significant spasticity, microcephaly, intellectual disability, seizures, and a lack of history of birth asphyxia, and most could be explained by either autosomal-recessive or X-linked-recessive inheritance. The genetic contribution to athetoid cerebral palsy is small, with an overall risk of recurrence in siblings of about 1%. This risk is lower than previously suggested in the literature. (J Child Neurol 2001;16:793—797).

Journal of Child Neurology, Vol. 16, No. 11, 793-797 (2001)
DOI: 10.1177/08830738010160110301


CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?