Pathology of inherited manganese transporter deficiency
Mirna Lechpammer MD, PhD
Department Pathology and Laboratory Medicine, University of California, Davis Medical Center, Sacramento, CA
Search for more papers by this authorMichael S. Clegg PhD
Department of Food Science and Technology, University of California, Davis, CA
Search for more papers by this authorZukhrofi Muzar MD
Department Pathology and Laboratory Medicine, University of California, Davis Medical Center, Sacramento, CA
Search for more papers by this authorPhilip A. Huebner
Department Pathology and Laboratory Medicine, University of California, Davis Medical Center, Sacramento, CA
Search for more papers by this authorLee-Way Jin MD, PhD
Department Pathology and Laboratory Medicine, University of California, Davis Medical Center, Sacramento, CA
Search for more papers by this authorCorresponding Author
Sidney M. Gospe Jr MD, PhD
Departments of Neurology and Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA
Address correspondence to Dr Gospe, Seattle Children's Hospital, 4800 Sand Point Way NE, Neurology, MB.7.420, Seattle, WA 98105. E-mail: [email protected]Search for more papers by this authorMirna Lechpammer MD, PhD
Department Pathology and Laboratory Medicine, University of California, Davis Medical Center, Sacramento, CA
Search for more papers by this authorMichael S. Clegg PhD
Department of Food Science and Technology, University of California, Davis, CA
Search for more papers by this authorZukhrofi Muzar MD
Department Pathology and Laboratory Medicine, University of California, Davis Medical Center, Sacramento, CA
Search for more papers by this authorPhilip A. Huebner
Department Pathology and Laboratory Medicine, University of California, Davis Medical Center, Sacramento, CA
Search for more papers by this authorLee-Way Jin MD, PhD
Department Pathology and Laboratory Medicine, University of California, Davis Medical Center, Sacramento, CA
Search for more papers by this authorCorresponding Author
Sidney M. Gospe Jr MD, PhD
Departments of Neurology and Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA
Address correspondence to Dr Gospe, Seattle Children's Hospital, 4800 Sand Point Way NE, Neurology, MB.7.420, Seattle, WA 98105. E-mail: [email protected]Search for more papers by this authorAbstract
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
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