We are grateful to the patients and their relatives for their cooperation. This work was partially supported by the Telethon Foundation (grant GGP12178 to CS); by PRIN Project (20102M7T8X_003 to AV); by Giovani Ricercatori from Ministero della Salute (grant GR-2011-02348266 to CS); by Ricerca Finalizzata from Ministero della salute (RF-2009-1499,542 to AV); by the European Community's Seventh Framework Program (FP7/2007-2013, SYBIL Project to AV and WVH); by PNR-CNR Aging Program 2012–2014 to PV and AV; by the Leenaards Foundation Lausanne and the Swiss National Foundation to AS-F; by the National Institutes of Health USA (R01 AR065407-01 to HCB), and by the Department of Veteran's Affairs USA (BX002490-01 to HCB); by the Research Foundation-Flanders (FWO grant G.0197.12N to WVH); and by a TOP grant to WVH. EB holds a postdoctoral fellowship of the Research Foundation-Flanders.
Author's roles: Molecular studies: EP, AP, and DS. Patient evaluation: ASF, FF, AN, MCF, and GG. Laboratory investigation: MM and AM. Exome sequencing and bioinformatics analysis: AA, GC, MO, and PU. Histological analysis: HCB and IT. Luciferase assay on LPR5: WVH and EB. Study design: PV, AV, and CS. Drafting manuscript and revising manuscript content: all authors.