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Tang, P. IBMPFD. Encyclopedia. Available online: https://encyclopedia.pub/entry/6058 (accessed on 20 September 2026).
Tang P. IBMPFD. Encyclopedia. Available at: https://encyclopedia.pub/entry/6058. Accessed September 20, 2026.
Tang, Peter. "IBMPFD" Encyclopedia, https://encyclopedia.pub/entry/6058 (accessed September 20, 2026).
Tang, P. (2021, January 04). IBMPFD. In Encyclopedia. https://encyclopedia.pub/entry/6058
Tang, Peter. "IBMPFD." Encyclopedia. Web. 04 January, 2021.
IBMPFD
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/inclusion-body-myopathy-with-early-onset-paget-disease-and-frontotemporal-dementia

Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD) is a condition that can affect the muscles, bones, and brain.

genetic conditions

References

  1. Forman MS, Mackenzie IR, Cairns NJ, Swanson E, Boyer PJ, Drachman DA, Jhaveri BS, Karlawish JH, Pestronk A, Smith TW, Tu PH, Watts GD, Markesbery WR, Smith CD,Kimonis VE. Novel ubiquitin neuropathology in frontotemporal dementia withvalosin-containing protein gene mutations. J Neuropathol Exp Neurol. 2006Jun;65(6):571-81.
  2. Guinto JB, Ritson GP, Taylor JP, Forman MS. Valosin-containing protein and thepathogenesis of frontotemporal dementia associated with inclusion body myopathy. Acta Neuropathol. 2007 Jul;114(1):55-61.
  3. Kimonis V. Inclusion Body Myopathy with Paget Disease of Bone and/orFrontotemporal Dementia. 2007 May 25 [updated 2019 Sep 12]. In: Adam MP, ArdingerHH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Availablefrom http://www.ncbi.nlm.nih.gov/books/NBK1476/
  4. Kimonis VE, Mehta SG, Fulchiero EC, Thomasova D, Pasquali M, Boycott K, NeilanEG, Kartashov A, Forman MS, Tucker S, Kimonis K, Mumm S, Whyte MP, Smith CD,Watts GD. Clinical studies in familial VCP myopathy associated with Paget diseaseof bone and frontotemporal dementia. Am J Med Genet A. 2008 Mar15;146A(6):745-57. doi: 10.1002/ajmg.a.31862.
  5. Kimonis VE, Watts GD. Autosomal dominant inclusion body myopathy, Pagetdisease of bone, and frontotemporal dementia. Alzheimer Dis Assoc Disord. 2005Oct-Dec;19 Suppl 1:S44-7.
  6. Kovach MJ, Waggoner B, Leal SM, Gelber D, Khardori R, Levenstien MA, ShanksCA, Gregg G, Al-Lozi MT, Miller T, Rakowicz W, Lopate G, Florence J, Glosser G,Simmons Z, Morris JC, Whyte MP, Pestronk A, Kimonis VE. Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in fourfamilies: hereditary inclusion body myopathy, Paget disease of bone, andfrontotemporal dementia. Mol Genet Metab. 2001 Dec;74(4):458-75.
  7. Nalbandian A, Donkervoort S, Dec E, Badadani M, Katheria V, Rana P, Nguyen C, Mukherjee J, Caiozzo V, Martin B, Watts GD, Vesa J, Smith C, Kimonis VE. Themultiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and amyotrophiclateral sclerosis. J Mol Neurosci. 2011 Nov;45(3):522-31. doi:10.1007/s12031-011-9627-y.
  8. Nalbandian A, Ghimbovschi S, Radom-Aizik S, Dec E, Vesa J, Martin B, Knoblach S, Smith C, Hoffman E, Kimonis VE. Global gene profiling of VCP-associatedinclusion body myopathy. Clin Transl Sci. 2012 Jun;5(3):226-34. doi:10.1111/j.1752-8062.2012.00407.x.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Peter Tang
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Entry Collection: MedlinePlus
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Update Date: 04 Jan 2021
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