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A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy

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Abstract

Hereditary spastic paraplegias (HSPs) include a group of neurodegenerative diseases, and so far 46 SPG loci have been mapped and 17 genes isolated. Among the autosomal dominant HSPs (AD-HSPs), SPG10 is a rare form due to mutations in KIF5A gene (locus 12q13.3). We describe the clinical, neurophysiological, morphological and genetic study of an Italian family with AD-HSP. The proband presented with an adult onset spastic paraparesis and diffuse paresthesias where neurophysiological and nerve biopsy morphological studies revealed an axonal neuropathy. Molecular genetic analysis identified a new missense mutation (c.608C>G) of KIF5A gene resulting in a serine to cysteine substitution, S203C, located in a highly conserved domain of the protein. This pedigree confirms the occurrence of an axonal peripheral neuropathy in SPG10.

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Acknowledgments

The study has been supported by governmental grants RF 2007-75, RC2008-2009, Ex Art56 PS Neuro, Cariplo foundation grant #2007.5156.

Conflict of interest

The authors have reported no conflicts of interest.

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Authors and Affiliations

  1. Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy

    Olimpia Musumeci, Anna Mazzeo & Antonio Toscano

  2. Laboratory of Molecular Biology IRCCS E. Medea, Bosisio Parini, Lecco, Italy

    Maria Teresa Bassi & Claudia Crimella

  3. Department of Neurosciences, Ophthalmology, and Genetics, University of Genova, Genova, Italy

    Marina Grandis

  4. IRCCS E. Medea Scientific Institute, Conegliano Research Centre, Conegliano, Italy

    Andrea Martinuzzi

  5. UOC Neurologia e Malattie Neuromuscolari, AOU Policlinico G. Martino, via Consolare Valeria, 98125, Messina, Italy

    Olimpia Musumeci

Authors
  1. Olimpia Musumeci
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  2. Maria Teresa Bassi
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  3. Anna Mazzeo
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  4. Marina Grandis
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  5. Claudia Crimella
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  6. Andrea Martinuzzi
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  7. Antonio Toscano
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Correspondence to Olimpia Musumeci.

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Musumeci, O., Bassi, M.T., Mazzeo, A. et al. A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy. Neurol Sci 32, 665–668 (2011). https://doi.org/10.1007/s10072-010-0445-8

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  • DOI: https://doi.org/10.1007/s10072-010-0445-8

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