title: [«A most strange instance of illness in several siblings»--first description of a rare neurological disease in 1830?].
abstract: Was district medical officer Jensen the first doctor to describe patients with Pantothenate Kinase-Associated Neurodegeneration (PKAN) in Volda in 1830? A case series of four siblings with the same disease written by district medical officer Peter Jensen (1799-1832) in Aalesund in 1830, was published in the Norwegian medical journal Eyr in 1832. The children, who were healthy almost up to school age, developed dystonic involuntary movements and deformities in all extremities, lost their ability to speak and were emaciated before they died at around the age of nine years. Further information about the family and a fifth affected child has been found in the parish records. The clinical picture is consistent with Pantothenate Kinase-Associated Neurodegeneration (PKAN), a rare condition with basal ganglia iron deposition, described in 1922 by the German neuropathologists Julius Hallervorden (1882-1965) and Hugo Spatz (1888-1969). The disease was formerly called Hallervorden-Spatz syndrome, but because of the medical activities undertaken by these two researchers before and during the Second World War, this eponym is no longer recommended.
authors.affiliation: Kunnskapssenteret i Folkehelseinstituttet og Institutt for helse og samfunn Universitetet i Oslo.
authors.forename: Magne
authors.initials: M
authors.lastname: Nylenna
authors.affiliation: Ålesund sjukehus Helse Møre og Romsdal.
authors.forename: Noralv
authors.initials: N
authors.lastname: Breivik
authors.affiliation: Avdeling for medisinsk genetikk Oslo universitetssykehus.
authors.forename: Arvid
authors.initials: A
authors.lastname: Heiberg
authors.affiliation: Institutt for helse og samfunn Universitetet i Oslo.
authors.forename: Øivind
authors.initials: Ø
authors.lastname: Larsen
mesh_terms: D002648:Child; D005260:Female; D049672:History, 19th Century; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009664:Norway; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000175:diagnosis / Q000266:history; D035583:Rare Diseases / Q000266:history; D035781:Siblings