Title

Motor neuron genotype-phenotype correlation

Short name

IBMPFD

Principal Investigator

Michael Benatar, MD, PhD

Site-PI

Summary

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.

Eligibility criteria

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

Funding agency

ALS Association

Collaborators

Bjorn Oskarsson, MD (University of California, Davis)

Paul Taylor, MD, PhD (St. Jude Children’s Research Hospital)

Bryan Traynor, MD (National Institutes of Health)

Conrad Chris Weihl, MD, PhD (Washington University)

Project manager

Catalina Maria Fernandez, MD
Email:
Phone: (305) 243-8487

Contact information

Link(s)

http://www.alsa.org/news/archive/2011-new-research-grants.html

http://www.alsa.org/news/archive/vcp-mutations-as-a-cause-of.html

http://alsn.mda.org/news/vcp-gene-implicated-familial-als-ibm

Publications

Johnson JO, Mandrioli J, Benatar M, Abramzon Y, Van Deerlin VM, Trojanowski JQ, Gibbs JR, Brunetti M, Gronka S, Wuu J, Ding J, McCluskey L, Martinez-Lage M, Falcone D, Hernandez DG, Arepalli S, Chong S, Schymick JC, Rothstein J, Landi1 F, Wang M, Calvo A, Mora G, Sabatelli M, Monsurrò MR, Battistini S, Salvi F, Spataro R, Sola P, Borghero G, ITALSGEN, Galassi G, Scholz SW, Taylor JP, Restagno G, Chiò A, Traynor BJ. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron. 2010 Dec 9;68(5):857-64.

Presentations and Lectures