A progranulin mutation associated with cortico-basal syndrome in an Italian family expressing different phenotypes of fronto-temporal lobar degeneration

@article{Coppola2011APM,
  title={A progranulin mutation associated with cortico-basal syndrome in an Italian family expressing different phenotypes of fronto-temporal lobar degeneration},
  author={Cinzia Coppola and Giacomina Rossi and Anna Maria Barbarulo and Giuseppe Di Fede and Carolina Foglia and Elena Piccoli and Giuseppe Piscosquito and Dario Saracino and Fabrizio Tagliavini and Roberto Cotrufo},
  journal={Neurological Sciences},
  year={2011},
  volume={33},
  pages={93-97}
}
Cortico-basal syndrome (CBS) is a rare neurodegenerative disease characterised by movement and cognitive disorders. It occurs along the spectrum of fronto-temporal lobar degeneration (FTLD), which also includes fronto-temporal dementia (FTD) and progressive supranuclear palsy (PSP). FTLD has recently been shown to be associated with mutations in GRN gene, coding for progranulin, a multifunctional secreted glycoprotein involved in cell cycle, inflammation and tissue repair. We describe the case… CONTINUE READING

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