METHOD OF DIAGNOSIS OF INCLUSION BODY MYOPATHY - PAGET BONE DISEASE - FRONTOTEMPORAL DEMENTIA SYNDROME

摘要

The present invention is based on the discovery of a genetic basis for inclusion body myopathy-Paget bone disease-frontotemporal dementia syndrome (IBMPFD). We have determined that genetic alterations in the gene encoding vasolin containing protein (VCP) is responsible for IBMPDF syndrome. In particular, we have identified six missense mutations within VCP that are found in affected individuals. Accordingly, the present invention, provides nucleic acids encoding these mutations as well as methods for diagnosis of IBMPFD.