Familial and genetic associations in Worster-Drought syndrome and perisylvian disorders.
Worster-Drought syndrome (WDS) is a distinct clinical phenotype, comprising a congenital pseudobulbar palsy usually in association with a mild tetraplegia and often additional impairments. The phenotype is identical to that described in congenital bilateral perisylvian polymicrogyria syndrome (CBPS) and appears to have several different causes and a significant familial incidence. This study draws from a database of children with WDS phenotype or perisylvian polymicrogyria, held at a tertiary center. The findings suggest that genetic factors are important for a significant proportion of children and points to considerable genetic heterogeneity. There are grounds for considering WDS and perisylvian polymicrogyria as a spectrum of perisylvian malfunction.
Clark
Maria
M
Neurosciences Unit, University College London, Institute of Child Health, London, UK.
Neville
Brian G R
BG
D001526:Behavioral Symptoms / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000209:etiology / Q000235:genetics*; D004200:Diseases in Twins; D004827:Epilepsy / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000209:etiology / Q000235:genetics* / Q000503:physiopathology; D005190:Family; D005260:Female; D006801:Humans; D007621:Karyotyping; D007859:Learning Disabilities / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000209:etiology / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D054220:Malformations of Cortical Development / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000209:etiology / Q000235:genetics*; D010641:Phenotype; D020828:Pseudobulbar Palsy / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D011782:Quadriplegia / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D011859:Radiography; D035781:Siblings; D013577:Syndrome