Sex-linked hereditary ataxic deplegia, the borderland between cerebral palsy and Pelizaeus-Merzbacher disease.
After a review of the literature concerning hereditary cases of cerebral palsy, a family is reported in which ataxic diplegia appears to be inherited as a sex-linked and probably recessive condition occurring in 3 males in successive generations. This ataxic diplegia, occurring after an unremarkable perinatal course, is associated with mild to moderate mental retardation, congenitial nystagmus and significantly small stature and prevents the acquisition of free walking. Associated extrapyramidal features may gradually become more marked, while the nystagmus may subside. The condition is similar to that described in three previous reports in the literature. No evidence of linkage with other sex-linked disorders has been found, Xga typing showed that recombination between the Xg locus and the locus for hereditary ataxic deplegia has occurred once out of three possible opportunities. In the absence of neuropathological findings or specific biochemical tests, the differential diagnosis from Pelizaeus-Merzbacher disease cannot be made with certainty. The differentiation from other progressive sex-linked neurological disorders is discussed.
D001259:Ataxia / Q000150:complications / Q000235:genetics*; D002547:Cerebral Palsy / Q000235:genetics*; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D005911:Gliosis; D006130:Growth Disorders / Q000150:complications; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D009759:Nystagmus, Pathologic / Q000150:complications; D009900:Optic Nerve / Q000473:pathology; D010264:Paraplegia / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D012730:Sex Chromosomes