A progranulin mutation associated with cortico-basal syndrome in an Italian family expressing different phenotypes of fronto-temporal lobar degeneration
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Cinzia Coppola • Giacomina Rossi • Anna Maria Barbarulo • Giuseppe Di Fede • Carolina Foglia • Elena Piccoli • Giuseppe Piscosquito • Dario Saracino
- چاپ و سال / کشور: 2011
Description
Cortico-basal syndrome (CBS) is a rare neurodegenerative disease characterised by movement and cognitive disorders. It occurs along the spectrum of frontotemporal 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 of a 73-year-old man suffering from CBS with a family history of cognitive disorders belonging to the clinical spectrum of FTLD. Sequencing analysis of GRN in this patient revealed that the C157KfsX97 null mutation has been already described by Le Ber et al. in a French patient affected by an apparently sporadic form of FTD. This report confirms the variability of clinical phenotypes associated with the same mutation and emphasises the importance of genetic analysis in cases with a clear familiarity, as well as in apparently sporadic forms.
Neurol Sci DOI 10.1007/s10072-011-0655-8 Received: 14 March 2011 / Accepted: 3 June 2011
