title: [A Case of Pol III-related Leukodystrophy with Homozygous Mutation in POLR3A].
abstract: We describe a 27-year-old man with mental retardation, symptomatic epilepsy, myopia, and cerebellar ataxia without spontaneous puberty whose brain magnetic resonance imaging showed hypomyelination. He had child-like facial appearance, with thin facial hair. He had no underarm and pubic hairs, and his penis was small. Laboratory tests showed low levels of luteinizing hormone, follicle-stimulating hormone, and testosterone. Brain MRI showed diffuse hypomyelination, atrophy of the cerebellum and brainstem, and hypoplastic corpus callosum. Ictal N-isopropyl-p-(indone-123)-iodoamphetamine single photon emission computed tomography (123I-IMP SPECT) revealed hypoperfusion of bilateral frontal cingulate and temporal lobe and cerebellar hemispheres. Homozygous missense mutation c.2350G>A was found in POLR3A and the patient was diagnosed with Pol III-related leukodystrophy, which is a rare disease. We describe the present case in light of the characteristics of the past reports in Japan. (Received April 5, 2016: Accepted June 30, 2016; Published November 1, 2016).
authors.affiliation: Department of Neurology, Sasebo City General Hospital, Department of Neurology, Sasebo City General Hospital.
authors.forename: Tomoaki
authors.initials: T
authors.lastname: Shima
authors.forename: Takeshi
authors.initials: T
authors.lastname: Fujimoto
authors.forename: Teiichiro
authors.initials: T
authors.lastname: Miyazaki
authors.forename: Fumiaki
authors.initials: F
authors.lastname: Nonaka
mesh_terms: D000328:Adult; D001927:Brain Diseases / Q000235:genetics* / Q000473:pathology; D003711:Demyelinating Diseases / Q000175:diagnosis / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D012320:RNA Polymerase III / Q000235:genetics*
chemical_list: C585825:POLR3A protein, human; D012320:RNA Polymerase III