title: A dominantly inherited progressive disease in a black family characterised by cerebellar and retinal degeneration, external ophthalmoplegia and abnormal mitochondria.
abstract: A report is given of a black family with a dominantly inherited, neuro-retinal degeneration associated with abnormally large mitochondria, in which the cristae are disoriented. The disease is characterised by progressive external ophthalmoplegia, clear-cut macular degeneration, cerebellar dysarthria, spastic paraplegia and finally facial and bulbar weakness. A similar illness has been described in black families and individuals and we suggest that the disease may represent a specific syndrome, possibly confined to blacks, that lies within the spectrum of the so-called mitochondrionopathies.
authors.affiliation: Department of Medicine, Princess Margaret Hospital, Roseau, Commonwealth of Dominica, West Indies.
authors.forename: P
authors.initials: P
authors.lastname: Cooles
authors.forename: R
authors.initials: R
authors.lastname: Michaud
authors.forename: P V
authors.initials: PV
authors.lastname: Best
mesh_terms: D000293:Adolescent; D000328:Adult; D044383:Black People; D002526:Cerebellar Diseases / Q000150:complications / Q000208:ethnology / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000473:pathology*; D009886:Ophthalmoplegia / Q000150:complications / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D012164:Retinal Diseases / Q000150:complications / Q000208:ethnology / Q000235:genetics*; D013577:Syndrome