Principal Investigator: Michael Benatar, MD, PhD
IBMPFD is a rare disorder in which affected individuals may have muscle weakness, Paget’s disease of bone and/or dementia. Muscle weakness in this disorder has typically been attributed to a disease of muscle known as inclusion body myopathy (IBM). The only identified genetic cause of IBMPFD is mutation of the VCP (valosin-containing protein) gene, although mutations in other genes are believed to cause IBMPFD in families without VCP mutations. We have recently found that mutations in VCP may also cause familial ALS and that ALS sometimes occurs in families with IBMPFD. Based on these observations, the goal of this study is to further explore the extent to which muscle weakness in people with IBMPFD might be due to motor neuron degeneration.
Individual affected with muscle weakness, Paget’s disease or dementia in a family known to have IBMPFD, irrespective of whether family is known to harbor a mutation in the VCP gene.
- Bjorn Oskarsson, MD (University of California, Davis)
- J. Paul Taylor, MD, PhD (St. Jude Children’s Research Hospital)
- Bryan Traynor, MD (National Institutes of Health)
- Conrad Chris Weihl, MD, PhD (Washington University, St. Louis)
- Catalina Maria Fernandez, MD
- Email: MFernandez4@med.miami.edu
- Phone: (305) 243-8487
- Benatar M, Wuu J, Fernandez C, Weihl CC, et al. Motor neuron involvement in multisystem proteinopathy: implications for ALS. Neurology. 2013 May 14;80(20):1874-80. [ PubMed Link ]
- Kim HJ, Kim NC, Wang YD, et al. Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature. 2013 Mar 28;495(7442):467-73. [ PubMed Link ]
- Abramzon Y, Johnson JO, Scholz SW, et al. Valosin-containing protein (VCP) mutations in sporadic amyotrophic lateral sclerosis, Neurobiology of Aging, Volume 33, Issue 9, September 2012, Pages 2231.e1-2231.e6. [ PubMed Link ]
- Johnson JO, Mandrioli J, Benatar M, et al. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron. 2010 Dec 9;68(5):857-64. [ PubMed Link ]
Benatar M. Motor neuron involvement in multi-system proteinopathy: implications for ALS/MND. 23rd International Symposium on ALS/MND, Chicago, Dec 5-7, 2012
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