Ultrastructural and electrophysiological correlation of the genotypes of NCL.
Several genetically different, but clinically similar childhood forms of neuronal ceroid lipofuscinosis are now recognized. Accurate diagnosis is important so that appropriate genetic advice can be given, molecular analysis can be undertaken, and prenatal testing can be considered. A combined clinical, electrophysiological, and histological (light and electron microscopy) approach offers the most reliable means of diagnosis in the majority of patients. Patients with an unusual presentation will also be identified.
Williams
R E
RE
Department of Neurology, Great Ormond Street Hospital for Children, London, WC1N 3JH, United Kingdom.
Boyd
S
S
Lake
B D
BD
D004569:Electroencephalography; D004594:Electrophysiology; D004596:Electroretinography; D005838:Genotype; D006801:Humans; D008854:Microscopy, Electron; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology