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Journal of Neurology

, Volume 261, Issue 9, pp 1825–1827 | Cite as

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

  • Maria Pia GiannoccaroEmail author
  • Rocco Liguori
  • Alessia Arnoldi
  • Vincenzo Donadio
  • Patrizia Avoni
  • Maria Teresa Bassi
Letter to the Editors

Dear Sirs,

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) is a heterogeneous group of complicated HSP with intellectual disability, among which SPG11 represents the most frequent subtype [1].

Disease onset occurs mainly during infancy/adolescence and is usually characterized by progressive spasticity and mental retardation and/or progressive cognitive decline [1].

Here, we describe an atypical phenotype of HSP-TCC related to new compound heterozygous mutations in the Spatacsin (SPG11) gene. The non-consanguineous family under examination has two affected brothers (Fig.  1). Patient II-3 is a 47-year-old male who developed walking difficulties and urinary disturbances at age 42 years. A brain MRI was considered as normal. His affected 53-years-old brother (II-1) developed spastic paraplegia at age 49 associated with urinary urgency and modifications in mood and character. His detailed evaluation was not performed as he refused to undergo to further...

Keywords

Intellectual Disability Splice Site Mutation Hereditary Spastic Paraplegia Compound Heterozygous Mutation Missense Change 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

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.

References

  1. 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 131:772–784CrossRefPubMedGoogle Scholar
  2. 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 19:52–60CrossRefPubMedGoogle Scholar
  3. 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 16:121–126CrossRefPubMedGoogle Scholar
  4. 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–e8CrossRefPubMedGoogle Scholar
  5. 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–e15CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • Maria Pia Giannoccaro
    • 1
    • 2
    Email author
  • Rocco Liguori
    • 1
    • 2
  • Alessia Arnoldi
    • 3
  • Vincenzo Donadio
    • 2
  • Patrizia Avoni
    • 1
    • 2
  • Maria Teresa Bassi
    • 3
  1. 1.Department of Biomedical and Neuromotor SciencesUniversity of BolognaBolognaItaly
  2. 2.IRCCS Istituto delle Scienze Neurologiche, Ospedale BellariaBolognaItaly
  3. 3.Scientific Institute IRCCS Eugenio Medea, Laboratory of Molecular BiologyBosisio PariniItaly

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