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Journal of Neurology
Published in: Journal of Neurology 1/2014

01-01-2014 | Letter to the Editors

Two-year follow-up after chelating therapy in a patient with adult-onset parkinsonism and hypermanganesaemia due to SLC30A10 mutations

Authors: L. Di Toro Mammarella, A. Mignarri, C. Battisti, L. Monti, V. Bonifati, F. Rasi, A. Federico

Published in: Journal of Neurology | Issue 1/2014

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Excerpt

Dear Sirs, …
Literature
1.
Quadri M, Federico A, Zhao T et al (2012) Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. AJHG 90:467–477CrossRef
2.
Tuschl K, Clayton PT, Gospe SM Jr et al (2012) Syndrome of hepatic cirrhosis, dystonia, polycythemia and hypermanganesemia caused by mutation in SLC30A10, a manganese transporter in man. AJHG 90:457–466CrossRef
3.
Tuschl K, Mills PB, Parsons H, Malone M, Fowler D, Bitner-Glindzicz M, Clayton PT (2008) Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia––a new metabolic disorder. J Inherit Metab Dis 31(2):151–163CrossRefPubMed
4.
Stamelou M, Tuschl K, Chong KW, Burroughs AK, Mills BP, Bhatia KP, Clayton PT (2012) Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder. Mov disorder 27:1317–1322CrossRef
5.
Krieger D, Krieger S, Jansen O, Gass P, Theilmann L, Lichtnecker H (1995) Manganese and chronic hepatic encephalopathy. Lancet 346:270–274CrossRefPubMed
6.
Maffeo E, Montuschi A, Stura G, Giordana MT (2013) Chronic acquired hepatocerebral degeneration, pallidal T1 MRI hyperintensity and manganese in a series of cirrhotic patients. Neurol Sci. doi:10.​1007/​s10072-013-1458-x
Metadata
Title
Two-year follow-up after chelating therapy in a patient with adult-onset parkinsonism and hypermanganesaemia due to SLC30A10 mutations
Authors
L. Di Toro Mammarella
A. Mignarri
C. Battisti
L. Monti
V. Bonifati
F. Rasi
A. Federico
Publication date
01-01-2014
Publisher
Springer Berlin Heidelberg
Published in
Journal of Neurology / Issue 1/2014
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-013-7187-5

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