VCP mutations in familial and sporadic amyotrophic lateral sclerosis.

  title={VCP mutations in familial and sporadic amyotrophic lateral sclerosis.},
  author={Max Koppers and Marka van Blitterswijk and Lotte Vlam and Paulina A Rowicka and Paul W. J. van Vught and Ewout J N Groen and Wim G. M. Spliet and Jooyeon Engelen-Lee and Helenius Jurgen Schelhaas and Marianne de Visser and Anneke Jelly van der Kooi and W L van der Pol and R Jeroen Pasterkamp and Jan Herman Veldink and Leonard H van den Berg},
  journal={Neurobiology of aging},
  volume={33 4},
Mutations in the valosin-containing protein (VCP) gene were recently reported to be the cause of 1%-2% of familial amyotrophic lateral sclerosis (ALS) cases. VCP mutations are known to cause inclusion body myopathy (IBM) with Paget's disease (PDB) and frontotemporal dementia (FTD). The presence of VCP mutations in patients with sporadic ALS, sporadic ALS-FTD, and progressive muscular atrophy (PMA), a known clinical mimic of inclusion body myopathy, is not known. To determine the identity and… CONTINUE READING


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