Pathology of inherited manganese transporter deficiency

Mirna Lechpammer, Michael S. Clegg, Zukhrofi Muzar, Philip A. Huebner, Lee-Way Jin, Sidney M. Gospe

Research output: Contribution to journalArticle

41 Scopus citations

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. Ann Neurol 2014;75:608-612

Original languageEnglish (US)
Pages (from-to)608-612
Number of pages5
JournalAnnals of Neurology
Volume75
Issue number4
DOIs
StatePublished - 2014

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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