title: A mother and a child with maternally inherited diabetes and deafness (MIDD) showing atrophy of the cerebrum, cerebellum and brainstem on magnetic resonance imaging (MRI).
abstract: A mother and a child with maternally inherited diabetes and deafness (MIDD) showing atrophy of the cerebrum, cerebellum and brainstem on magnetic resonance imaging (MRI) were reported. The proband had slowly progressive cerebellar ataxia and her son had depression. Mitochondrial DNA purified from their leucocytes had the heteroplasmic point mutation at position 3243 (A-->G). Involvement of the central nervous system should be considered in MIDD as well as in other mitochondrial diseases.
authors.affiliation: Department of Neurology, Musashino Redcross Hospital, Musashino.
authors.forename: Zen
authors.initials: Z
authors.lastname: Kobayashi
authors.forename: Taiji
authors.initials: T
authors.lastname: Tsunemi
authors.forename: Hirotomo
authors.initials: H
authors.lastname: Miake
authors.forename: Seiichi
authors.initials: S
authors.lastname: Tanaka
authors.forename: Sadakiyo
authors.initials: S
authors.lastname: Watabiki
authors.forename: Yuri
authors.initials: Y
authors.lastname: Morokuma
mesh_terms: D000328:Adult; D000368:Aged; D001284:Atrophy; D001933:Brain Stem / Q000000981:diagnostic imaging / Q000473:pathology*; D002524:Cerebellar Ataxia / Q000175:diagnosis / Q000209:etiology; D004272:DNA, Mitochondrial / Q000235:genetics; D003638:Deafness / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D003863:Depression / Q000175:diagnosis / Q000209:etiology; D048909:Diabetes Complications; D003920:Diabetes Mellitus / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D013687:Telencephalon / Q000000981:diagnostic imaging / Q000473:pathology*; D014057:Tomography, X-Ray Computed
chemical_list: D004272:DNA, Mitochondrial