Pathology of inherited manganese transporter deficiency.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Lechpammer, M; Clegg, MS; Muzar, Z; Huebner, PA; Jin, L-W; Gospe, SM

Published Date

  • April 2014

Published In

Volume / Issue

  • 75 / 4

Start / End Page

  • 608 - 612

PubMed ID

  • 24599576

Electronic International Standard Serial Number (EISSN)

  • 1531-8249

Digital Object Identifier (DOI)

  • 10.1002/ana.24131


  • eng

Conference Location

  • United States