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01-02-2014 | Letter to the Editors

SPG15: a cause of juvenile atypical levodopa responsive parkinsonism

Authors: Martial Mallaret, Ouhaid Lagha-Boukbiza, Saskia Biskup, Izzie Jacques Namer, Gabrielle Rudolf, Mathieu Anheim, Christine Tranchant

Published in: Journal of Neurology | Issue 2/2014

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Hanein S, Martin E, Boukhris A et al (2008) Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet 82:992–1002PubMedCentralCrossRefPubMed

Schicks J, Synofzik M, Pétursson H et al (2011) Atypical juvenile parkinsonism in a consanguineous SPG15 family. Mov Disord 26:564–566CrossRefPubMed

Goizet C, Boukhris A, Maltete D et al (2009) SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum. Neurology 73:1111–1119CrossRefPubMed

Paisán-Ruiz C, Guevara R, Federoff M et al (2010) Early-onset L-dopa responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. Mov Disord 25:1791–1800CrossRefPubMed

Anheim M, Lagier-Tourenne C, Stevanin G et al (2009) SPG11 spastic paraplegia. A new cause of juvenile parkinsonism. J Neurol 256:104–108CrossRefPubMed

Guidubaldi A, Piano C, Santorelli FM et al (2011) Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism. Mov Disord 26:553–556CrossRefPubMed

Martin E, Yanicostas C, Rastetter A et al (2012) Spatacsin and spastizin act in the same pathway required for proper spinal motor neuron axon outgrowth in zebrafish. Neurobiol Dis 48:299–308CrossRefPubMed

Title: SPG15: a cause of juvenile atypical levodopa responsive parkinsonism
Authors: Martial Mallaret
Ouhaid Lagha-Boukbiza
Saskia Biskup
Izzie Jacques Namer
Gabrielle Rudolf
Mathieu Anheim
Christine Tranchant
Publication date: 01-02-2014
Publisher: Springer Berlin Heidelberg
Published in: Journal of Neurology / Issue 2/2014
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-013-7216-4

At a glance: The STEP trials

Springer Medicine

SPG15: a cause of juvenile atypical levodopa responsive parkinsonism

Excerpt

At a glance: The STEP trials

Springer Medicine

Excerpt

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