title: A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study.
abstract: A novel mitochondrial DNA transfer RNA mutation at position 5549 was identified in a patient with dementia, chorea, cerebellar ataxia, deafness, and peripheral neuropathy in the absence of clinical myopathy. Muscle biopsy specimens showed ragged red and cytochrome oxidase-negative fibers, and reduced complex I activity on polarography. There was diffuse neuronal loss and gliosis throughout the brain on postmortem examination. The heteroplasmic mutation had a widespread distribution in autopsy tissues.
authors.affiliation: University Department of Clinical Neurology, Institute of Neurology, London, United Kingdom.
authors.forename: I
authors.initials: I
authors.lastname: Nelson
authors.forename: M G
authors.initials: MG
authors.lastname: Hanna
authors.forename: N
authors.initials: N
authors.lastname: Alsanjari
authors.forename: F
authors.initials: F
authors.lastname: Scaravilli
authors.forename: J A
authors.initials: JA
authors.lastname: Morgan-Hughes
authors.forename: A E
authors.initials: AE
authors.lastname: Harding
mesh_terms: D000328:Adult; D001706:Biopsy; D001921:Brain / Q000473:pathology; D002524:Cerebellar Ataxia / Q000235:genetics* / Q000473:pathology; D002819:Chorea / Q000235:genetics* / Q000473:pathology; D004272:DNA, Mitochondrial / Q000032:analysis*; D003638:Deafness / Q000235:genetics*; D003704:Dementia / Q000235:genetics* / Q000473:pathology; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D010523:Peripheral Nervous System Diseases / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation; D013577:Syndrome
chemical_list: D004272:DNA, Mitochondrial