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- Title
Pathology of inherited manganese transporter deficiency.
- Authors
Lechpammer, Mirna; Clegg, Michael S.; Muzar, Zukhrofi; Huebner, Philip A.; Jin, Lee‐Way; Gospe, Sidney M.
- 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
- Publication
Annals of Neurology, 2014, Vol 75, Issue 4, p608
- ISSN
0364-5134
- Publication type
Article
- DOI
10.1002/ana.24131