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Journal of Neurology

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01-08-2015 | Letter to the Editors

Hereditary spastic paraplegia type 11 with a very late onset

Authors: Anna Rubegni, Eugenia Storti, Alessandra Tessa, Antonio Federico, Filippo M. Santorelli

Published in: Journal of Neurology | Issue 8/2015

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Tesson C, Koht J, Stevanin G (2015) Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology. Hum Genet 134(6):511–538PubMedCentralCrossRefPubMed

Stevanin G, Azzedine H, Denora P et al (2008) Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain 131(Pt 3):772–784CrossRefPubMed

Schüle R, Schlipf N, Synofzik M et al (2009) Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry 80(12):1402–1404CrossRefPubMed

Giannoccaro MP, Liguori R, Arnoldi A, Donadio V, Avoni P, Bassi MT (2014) Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene. J Neurol 261(9):1825–1827CrossRefPubMed

Crimella C, Arnoldi A, Crippa F et al (2009) Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum. J Med Genet 46(5):345–351CrossRefPubMed

Dixon-Salazar TJ, Silhavy JL, Udpa N et al (2012) Exome sequencing can improve diagnosis and alter patient management. Sci Transl Med 4(138):138ra78PubMedCentralCrossRefPubMed

Title: Hereditary spastic paraplegia type 11 with a very late onset
Authors: Anna Rubegni
Eugenia Storti
Alessandra Tessa
Antonio Federico
Filippo M. Santorelli
Publication date: 01-08-2015
Publisher: Springer Berlin Heidelberg
Published in: Journal of Neurology / Issue 8/2015
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-015-7854-9

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