Journal of Genetics

, Volume 97, Issue 5, pp 1469–1472 | Cite as

Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis

  • Mirella VinciEmail author
  • Marco Fichera
  • Sebastiano Antonino Musumeci
  • Francesco Cali
  • Girolamo Aurelio Vitello
Research Note


Hereditary spastic paraplegias are clinically and genetically heterogeneous degenerative disorders, and pathological variants in the autosomal recessive ZFYVE26 gene are considered as very rare causes. We describe a novel mutation in ZFYVE26 gene found in a patient with autosomal recessive spastic paraplegias. The use of a ‘target-gene’ approach allowed us to expand the clinical spectrum associated with hereditary spastic paraplegias.


ZFYVE26 gene hereditary spastic paraplegias next-generation sequencing 



Special acknowledgements for this paper are due to Mrs Eleonora Di Fatta for her valuable assistance in the translation, preparation and formatting of the text. This work was partially supported by the Italian Ministry of Health – Ricerca Corrente 2017 - and ‘5 per mille’ funding.


  1. Burguez D., Polese-Bonatto M., Scudeiro L. A. J., Björkhem I., Schöls L., Jardim L. B. et al. 2017 Clinical and molecular characterization of hereditary spastic paraplegias: a next-generation sequencing panel approach. J. Neurol. Sci. 383, 18–25.CrossRefGoogle Scholar
  2. Calì F., Chiavetta V., Ruggeri G., Piccione M., Selicorni A., Palazzo D. et al. 2017 Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform. Eur. J. Med. Genet. 60, 93–99.CrossRefGoogle Scholar
  3. Casali C., Valente E. M., Bertini E., Montagna G., Criscuolo C., De Michele G. et al. 2004 Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. Neurology. 62, 262–268.CrossRefGoogle Scholar
  4. Denora P. S., Muglia M., Casali C., Truchetto J., Silvestri G., Messina D. et al. 2009 Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population. J. Neurol. 277, 22–25.Google Scholar
  5. Depienne C., Stevanin G., Brice A. and Durr A. 2007 Hereditary spastic paraplegias: an update. Curr. Opin. Neurol. 20, 674–680.CrossRefGoogle Scholar
  6. Khundadze M., Kollmann K., Koch N., Biskup C., Nietzsche S., Zimmer G. et al. 2013 A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system, PLoS Genet. 9, e1003988.CrossRefGoogle Scholar
  7. Murmu R. P., Martin E., Rastetter A., Esteves T., Muriel M. P., El Hachimi K. M. et al 2011 Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia. Mol. Cell. Neurosci. 47, 191–202.Google Scholar
  8. Richards S., Aziz N., Bale S., Bick D., Das S., Gastier-Foster J. et al. 2015 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405–424.CrossRefGoogle Scholar
  9. Ruano L., Melo C., Silva M. C. and Coutinho P. 2014 The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 42, 174–183.CrossRefGoogle Scholar
  10. Stenson P. D., Mort M., Ball E. V., Shaw K., Phillips A. and Cooper D. N. 2014 The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum. Genet. 133, 1–9.Google Scholar

Copyright information

© Indian Academy of Sciences 2018

Authors and Affiliations

  1. 1.Oasi Research Institute-IRCCSTroinaItaly
  2. 2.Department of Biomedical and Biotechnological Sciences, Medical GeneticsUniversity of CataniaCataniaItaly

Personalised recommendations