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Journal of Neurology
Published in: Journal of Neurology 12/2015

01-12-2015 | Letter to the Editors

Treatment of SPG5 with cholesterol-lowering drugs

Authors: Andrea Mignarri, Alessandro Malandrini, Marina Del Puppo, Alessandro Magni, Lucia Monti, Federica Ginanneschi, Alessandra Tessa, Filippo Maria Santorelli, Antonio Federico, Maria Teresa Dotti

Published in: Journal of Neurology | Issue 12/2015

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Excerpt

Dear Sirs, …
Literature
1.
Tsaousidou MK, Ouahchi K, Warner TT, Yang Y, Simpson MA, Laing NG, Wilkinson PA, Madrid RE, Patel H, Hentati F, Patton MA, Hentati A, Lamont PJ, Siddique T, Crosby AH (2008) Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. Am J Hum Genet 82:510–515PubMedCentralCrossRefPubMed
2.
Schüle R, Siddique T, Deng HX, Yang Y, Donkervoort S, Hansson M, Madrid RE, Siddique N, Schöls L, Björkhem I (2010) Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis. J Lipid Res 51:819–823PubMedCentralCrossRefPubMed
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Heverin M, Meaney S, Lütjohann D, Diczfalusy U, Wahren J, Björkhem I (2005) Crossing the barrier: net flux of 27-hydroxycholesterol into the human brain. J Lipid Res 46:1047–1052CrossRefPubMed
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Mignarri A, Malandrini A, Del Puppo M, Magni A, Monti L, Ginanneschi F, Tessa A, Santorelli FM, Federico A, Dotti MT (2014) Hereditary spastic paraplegia type 5: a potentially treatable disorder of cholesterol metabolism. J Neurol 261:617–619CrossRefPubMed
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Dai D, Mills PB, Footitt E, Gissen P, McClean P, Stahlschmidt J, Coupry I, Lavie J, Mochel F, Goizet C, Mizuochi T, Kimura A, Nittono H, Schwarz K, Crick PJ, Wang Y, Griffiths WJ, Clayton PT (2014) Liver disease in infancy caused by oxysterol 7 α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid. J Inherit Metab Dis 37:851–861CrossRefPubMed
Metadata
Title
Treatment of SPG5 with cholesterol-lowering drugs
Authors
Andrea Mignarri
Alessandro Malandrini
Marina Del Puppo
Alessandro Magni
Lucia Monti
Federica Ginanneschi
Alessandra Tessa
Filippo Maria Santorelli
Antonio Federico
Maria Teresa Dotti
Publication date
01-12-2015
Publisher
Springer Berlin Heidelberg
Published in
Journal of Neurology / Issue 12/2015
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-015-7971-5

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