PATERNAL AGE EFFECT IN SOME CEREBRAL PALSY- ATHETOID/DYSTONIC - HEMIPLEGIC CEREBRAL PALSY

1: J Med Genet. 1993 Jan;30(1):44-6. Links
Parental age, genetic mutation, and cerebral palsy.Fletcher NA, Foley J.
Department of Neurological Sciences, St Bartholomew's Hospital, London.
Parental age and birth order were studied in 251 patients with cerebral palsy. No parental age or birth order effects were observed in spastic quadriplegia or diplegia, but a paternal age effect was detected in those with athetoid/dystonic cerebral palsy and congenital hemiplegia. These observations indicate that some cases of athetoid/dystonic or hemiplegic cerebral palsy might arise by fresh dominant genetic mutation.






Dev Med Child Neurol. 1996 Oct;38(10):873-80. Links
Comment in:
Dev Med Child Neurol. 1996 Oct;38(10):871-2.
Dyskinetic cerebral palsy: a clinical and genetic study.Fletcher NA, Marsden CD.
Walton Centre for Neurology and Neurosurgery, Liverpool, UK.

The clinical features and family histories of 20 adults with dyskinetic cerebral palsy from 20 families were studied. The majority of the patients showed progressive neurological deterioration in adult life. In only three did the condition stabilise by 10 years of age and in seven there was deterioration after the age of 30. Two patients developed a secondary cervical spondylotic myelopathy. Four patients had affected relatives and there were similar proportions of affected parents and siblings. The family data suggest genetic heterogeneity with autosomal recessive and The existence of an X-linked form cannot be excluded, and the demonstration of an increased paternal age effect among single cases suggests that some of these may arise because of fresh dominant genetic mutation.dominant variants. PMID: 8870609 [PubMed - indexed for MEDLINE]

1: Dev Med Child Neurol. 1977 Apr;19(2):179-91. Links
Recurrence risks in families of children with symmetrical spasticity.Bundey S, Griffiths MI.
This study was undertaken to evaluate the recurrence risks for sibs of patients with symmetrical spasticity (either quadriplegia or diplegia) in the absence of factors known to cause spastic cerebral palsy (e.g. pre-term birth, perinatal hypoxia). Among 669 children in the West Midlands with spastic cerebral palsy, 24 had symmetrical spasticity and normal birth histories. This group was clinically and genetically heterogenous. Among their 55 sibs, six had a spastic disorder similar to that in the index patient, and one further sib, who had died young, had been mentally retarded. Of particular interest were two families with an autosomal recessive condition of post-natal microcephaly, myoclonic epilepsy and spastic quadriplegia; and one family, and possibly a sporadic case of X-linked athetoid cerebral palsy. The recurrence risk in this series of approximately 1 in 9 suggests that about half the children with symmetrical spastic cerebral palsy and a normal birth history may have a recessive condition.