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Journal of Neurology

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Open Access 01-09-2013 | Letter to the Editors

Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to l-DOPA treatment

Authors: Conceição Bettencourt, Huw R. Morris, Andrew B. Singleton, John Hardy, Henry Houlden

Published in: Journal of Neurology | Issue 9/2013

Excerpt

Dear Sirs, …

Bettencourt C, Lopez-Sendon JL, Garcia-Caldentey J, Rizzu P, Bakker IMC, Shomroni O, Quintáns B, Davila JR, Bevova MR, Sobrido M-J, Heutink P, Garcia de Yebenes J (2013) Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia. Clin Genet (in press)

Bettencourt C, Quintans B, Ros R, Ampuero I, Yanez Z, Pascual SI, de Yebenes JG, Sobrido MJ (2012) Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias. Hum Mutat 33:1315–1323PubMedCrossRef

de Bot ST, Vermeer S, Buijsman W, Heister A, Voorendt M, Verrips A, Scheffer H, Kremer HP, van de Warrenburg BP, Kamsteeg EJ (2013) Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene. J Neurol 260:1765–1769PubMedCrossRef

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Reid E, Dearlove AM, Whiteford ML, Rhodes M, Rubinsztein DC (1999) Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity. Neurology 53:1844–1849PubMedCrossRef

Rocco P, Vainzof M, Froehner SC, Peters MF, Marie SK, Passos-Bueno MR, Zatz M (2000) Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin. Am J Med Genet 92:122–127PubMedCrossRef

Valdmanis PN, Meijer IA, Reynolds A, Lei A, MacLeod P, Schlesinger D, Zatz M, Reid E, Dion PA, Drapeau P, Rouleau GA (2007) Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. Am J Hum Genet 80:152–161PubMedCrossRef

Title: Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to l-DOPA treatment
Authors: Conceição Bettencourt
Huw R. Morris
Andrew B. Singleton
John Hardy
Henry Houlden
Publication date: 01-09-2013
Publisher: Springer Berlin Heidelberg
Published in: Journal of Neurology / Issue 9/2013
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-013-7044-6

At a glance: The STEP trials

Springer Medicine

Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to l-DOPA treatment

Excerpt

At a glance: The STEP trials

Springer Medicine

Excerpt

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