ZFYVE26/SPASTIZIN: A close link between complicated hereditary spastic paraparesis and autophagy

Chiara Vantaggiato, Emilio Clementi, Maria Teresa Bassi

Research output: Contribution to journalArticlepeer-review


Defective autophagy is associated with neurodegenerative disorders including Alzheimer, Parkinson and Huntington diseases, amyotrophic lateral sclerosis and SCA (spinocerebellar ataxias). Autophagy defects were detected also in SPG49, a complicated form of hereditary spastic paraparesis (cHSP) associated with mutations in the TECPR2 gene, suggesting a role of autophagy also in this heterogeneous group of neurodegenerative diseases. We recently found defective autophagy in SPG15, another HSP subtype associated with mutations in the ZFYVE26/SPG15 gene. Patient-derived cells (fibroblasts/ lymphoblasts) carrying different ZFYVE26 mutations show accumulation of immature autophagosomes and increased MAP1LC3B-II and SQSTM1/p62 levels. These findings indicate that ZFYVE26 is a key determinant of autophagosome maturation, which is impaired when the protein is defective or absent. Replication of these findings in primary neurons supports the relevance of defective autophagy in SPG15-related neurodegeneration.

Original languageEnglish
Pages (from-to)374-375
Number of pages2
Issue number2
Publication statusPublished - Feb 2014


  • Autophagosome maturation
  • Autophagy
  • BECN1/Beclin 1
  • Complicated hereditary spastic paraparesis
  • SPG15

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology


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