Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Definition:

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a rare disorder characterized by progressive degeneration of muscle, brain, motor neurons and bone. Some cases are caused by mutations in the VCP gene, which encodes the AAA+ ATPase, a ubiquitin-dependent segregase. Recently, pathogenic mutations have been defined in heterogeneous nuclear ribonucleoproteins (hnRNPs) A2B1 and A1.

References:

[1]. D Haubenberger, et al. Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. Neurology. 2005 Oct 25;65(8):1304-5. [Content Brief]

[2]. Hong Joo Kim, et al. Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature. 2013 Mar 28;495(7442):467-73. [Content Brief]

[3]. Wai Kwan Tang, et al. Mutations in the Human AAA+ Chaperone p97 and Related Diseases. Front Mol Biosci. 2016 Dec 1;3:79. [Content Brief]

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