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References
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):511–538
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):772–784
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):1402–1404
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):1825–1827
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):345–351
Dixon-Salazar TJ, Silhavy JL, Udpa N et al (2012) Exome sequencing can improve diagnosis and alter patient management. Sci Transl Med 4(138):138ra78
Acknowledgments
This work was supported in part by grants from the Italian Ministry of Health (Ricerca Corrente). We thank Jacopo Baldacci for technical advice on the study and Catherine J. Wrenn for expert editing of the manuscript.
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This study was approved by the IRCCS Stella Maris ethic committee and was performed in agreement with national laws on clinical and genetic studies and following the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments.
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415_2015_7854_MOESM1_ESM.wmv
Supplementary material 1 (WMV 8166 kb). Video segment 1: Clinical features in the new SPG11 patient at the age of 53, five years after the onset of his symptoms. Slight distal amyotrophy is evident (thighs and hands). Video segment 2: Arrows indicate thinning of the anterior corpus callosum and periventricular white matter hyperintensities on T2-weighted brain MRI images (sagittal, axial, and coronal sections).
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Rubegni, A., Storti, E., Tessa, A. et al. Hereditary spastic paraplegia type 11 with a very late onset. J Neurol 262, 1987–1989 (2015). https://doi.org/10.1007/s00415-015-7854-9
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DOI: https://doi.org/10.1007/s00415-015-7854-9