title: An established case of dentatorubral pallidoluysian atrophy (DRPLA) with unusual features on muscle biopsy.
abstract: Dentatorubral pallidoluysian atrophy (DRPLA) belongs to the group of autosomal dominant ataxias. Central nervous system pathology and inheritance are both well characterized, although the illness is rare. The presentation of a European child affected by this illness is described. He presented at 9 years of age with intractable progressive myoclonus epilepsy against a background of learning difficulties and developed progressive hypertonicity and dementia before his death at 15 years of age. Significant histological changes in a muscle biopsy were found. There was an absence of type IIB fibres and a predominance of type I fibres. Mean fibre diameter of all the fibre types was markedly reduced. All type I fibres showed an increase in lipid droplets. No previous descriptions exist of muscle histology in DRPLA. Although at least five adult family members have symptoms consistent with a diagnosis of DRPLA, their condition had not been recognized. We therefore describe the clinical picture and histological findings.
authors.affiliation: Department of Paediatric Neurology, Birmingham Children's Hospital, UK.
authors.forename: H
authors.initials: H
authors.lastname: Cox
authors.forename: N M
authors.initials: NM
authors.lastname: Costin-Kelly
authors.forename: P
authors.initials: P
authors.lastname: Ramani
authors.forename: W P
authors.initials: WP
authors.lastname: Whitehouse
mesh_terms: D000293:Adolescent; D001706:Biopsy; D002648:Child; D002658:Developmental Disabilities / Q000209:etiology*; D004569:Electroencephalography; D020195:Epilepsy, Reflex / Q000209:etiology; D017809:Fatal Outcome; D020234:Gait Ataxia / Q000209:etiology*; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology*; D020191:Myoclonic Epilepsies, Progressive / Q000150:complications / Q000209:etiology* / Q000235:genetics / Q000473:pathology*; D010375:Pedigree; D010641:Phenotype