title: Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation.
abstract: This case concerns a 17-year-old boy, who was given the diagnosis of Alpers syndrome only postmortem when a homozygous 1399G-->A (A467T) mutation was found in the linker-region of POLG1. Serial muscle and liver biopsies as well as brain MRI scans in our patient ranging from early childhood to postmortem analyses showed that (i) routine diagnostic procedures can be normal in the early stage of the disorder and that (ii) central nervous system and further organ affection may only develop in the time course of the disease. Consecutive diagnostic examinations clearly reflected the devastating clinical course and cerebral deterioration evolving over time in Alpers syndrome.
authors.affiliation: Department of Epileptology, University Hospital of Bonn, Germany. monika.boes@ukb.uni-bonn.de
authors.forename: M
authors.initials: M
authors.lastname: Boes
authors.forename: J
authors.initials: J
authors.lastname: Bauer
authors.forename: H
authors.initials: H
authors.lastname: Urbach
authors.forename: C E
authors.initials: CE
authors.lastname: Elger
authors.forename: S
authors.initials: S
authors.lastname: Frank
authors.forename: M
authors.initials: M
authors.lastname: Baron
authors.forename: G
authors.initials: G
authors.lastname: Zsurka
authors.forename: W S
authors.initials: WS
authors.lastname: Kunz
authors.forename: C
authors.initials: C
authors.lastname: Kornblum
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology*; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000150:complications / Q000473:pathology; D018450:Disease Progression; D006801:Humans; D008107:Liver Diseases / Q000209:etiology* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D009132:Muscles / Q000473:pathology*; D009154:Mutation / Q000235:genetics*
chemical_list: D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human