Article
A progranulin mutation associated with cortico-basal syndrome in an Italian family expressing different phenotypes of fronto-temporal lobar degeneration.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Feb 2012
Coppola Cinzia, Rossi Giacomina, Barbarulo Anna Maria, Di Fede Giuseppe, Foglia Carolina, Piccoli Elena, Piscosquito Giuseppe, Saracino Dario, Tagliavini Fabrizio, Cotrufo Roberto
Abstract excerpt
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...
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