title: Pathology of inherited manganese transporter deficiency.
abstract: We followed a patient with manganese transporter deficiency due to homozygous SLC30A10 mutations from age 14 years until his death at age 38 years and present the first postmortem findings of this disorder. The basal ganglia showed neuronal loss, rhodanine-positive deposits, astrocytosis, myelin loss, and spongiosis. SLC30A10 protein was reduced in residual basal ganglia neurons. Depigmentation of the substantia nigra and other brainstem nuclei was present. Manganese content of basal ganglia and liver was increased 16-fold and 9-fold, respectively. Our study provides a pathological foundation for further investigation of central nervous system toxicity secondary to deregulation of manganese metabolism.
authors.affiliation: Department Pathology and Laboratory Medicine, University of California, Davis Medical Center, Sacramento, CA.
authors.forename: Mirna
authors.initials: M
authors.lastname: Lechpammer
authors.forename: Michael S
authors.initials: MS
authors.lastname: Clegg
authors.forename: Zukhrofi
authors.initials: Z
authors.lastname: Muzar
authors.forename: Philip A
authors.initials: PA
authors.lastname: Huebner
authors.forename: Lee-Way
authors.initials: LW
authors.lastname: Jin
authors.forename: Sidney M
authors.initials: SM
authors.lastname: Gospe
mesh_terms: D000328:Adult; D001479:Basal Ganglia / Q000473:pathology*; D027682:Cation Transport Proteins / Q000172:deficiency* / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D008345:Manganese / Q000378:metabolism*; D008659:Metabolic Diseases / Q000473:pathology*; D056951:Photoelectron Spectroscopy; D011180:Postmortem Changes; D000075703:Zinc Transporter 8
chemical_list: D027682:Cation Transport Proteins; C492522:SLC30A8 protein, human; D000075703:Zinc Transporter 8; D008345:Manganese