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Journal of Neurology

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01-09-2014 | Letter to the Editors

Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene

Authors: Maria Pia Giannoccaro, Rocco Liguori, Alessia Arnoldi, Vincenzo Donadio, Patrizia Avoni, Maria Teresa Bassi

Published in: Journal of Neurology | Issue 9/2014

Excerpt

Dear Sirs, …

Stevanin G, Azzedine H, Denora P, On behalf of the SPATAX Consortium 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 131:772–784CrossRefPubMed

Riverol M, Samaranch L, Pascual B et al (2009) Forceps minor region signal abnormality “ears of the lynx”: an early MRI finding in spastic paraparesis with thin corpus callosum and mutations in the spatacsin gene (SPG11) on chromosome 15. J Neuroimaging 19:52–60CrossRefPubMed

Pippucci T, Panza E, Pompilii E et al (2009) Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity. Eur J Neurol 16:121–126CrossRefPubMed

Yoon WT, Lee WY, Lee ST, Ahn JY, Ki CS, Cho JW (2012) Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation. Eur J Neurol 19:e7–e8CrossRefPubMed

Romagnolo A, Masera S, Mattioda A et al (2014) Atypical hereditary spastic paraplegia mimicking multiple sclerosis associated with a novel SPG11 mutation. Eur J Neurol 21:e14–e15CrossRefPubMed

Title: Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene
Authors: Maria Pia Giannoccaro
Rocco Liguori
Alessia Arnoldi
Vincenzo Donadio
Patrizia Avoni
Maria Teresa Bassi
Publication date: 01-09-2014
Publisher: Springer Berlin Heidelberg
Published in: Journal of Neurology / Issue 9/2014
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-014-7443-3

At a glance: The STEP trials

Springer Medicine

Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene

Excerpt

At a glance: The STEP trials

Springer Medicine

Excerpt

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