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

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References

  1. 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 131:772–784

    Article  PubMed  Google Scholar 

  2. 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 19:52–60

    Article  CAS  PubMed  Google Scholar 

  3. 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 16:121–126

    Article  CAS  PubMed  Google Scholar 

  4. 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–e8

    Article  CAS  PubMed  Google Scholar 

  5. 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–e15

    Article  CAS  PubMed  Google Scholar 

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Acknowledgments

We thank the patients and their family for their cooperation and participation in the study. We thank C. Baroncini for the English editing. The research was supported by funds from the Italian Ministry of Health (RC2013-2014) and 5X Mille to MTB.

Conflicts of interest

Authors declare no competing interests.

Ethical standards

Patients gave their written informed consent to participate to the study. The study was approved by the Ethical Committees of both institutions.

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Authors and Affiliations

  1. Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy

    Maria Pia Giannoccaro, Rocco Liguori & Patrizia Avoni

  2. IRCCS Istituto delle Scienze Neurologiche, Ospedale Bellaria, Via Altura 3, 40139, Bologna, Italy

    Maria Pia Giannoccaro, Rocco Liguori, Vincenzo Donadio & Patrizia Avoni

  3. Scientific Institute IRCCS Eugenio Medea, Laboratory of Molecular Biology, 23842, Bosisio Parini, Lecco, Italy

    Alessia Arnoldi & Maria Teresa Bassi

Authors
  1. Maria Pia Giannoccaro
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  2. Rocco Liguori
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  3. Alessia Arnoldi
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  4. Vincenzo Donadio
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  5. Patrizia Avoni
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  6. Maria Teresa Bassi
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Corresponding author

Correspondence to Maria Pia Giannoccaro.

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Giannoccaro, M.P., Liguori, R., Arnoldi, A. et al. Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene. J Neurol 261, 1825–1827 (2014). https://doi.org/10.1007/s00415-014-7443-3

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  • DOI: https://doi.org/10.1007/s00415-014-7443-3

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