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multisystem proteinopathy
Multisystem proteinopathy (MSP) is a dominantly inherited, pleiotropic, degenerative disorder of humans that can affect muscle, bone and/or the central nervous system. MSP can manifest clinically as classical amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), inclusion body myopathy (IBM), Paget's disease of bone (PDB), or as a combination of these disorders. A useful operational definition of MSP is dominantly inherited degeneration that includes neurological involvement (either motor neuron disease or dementia) in combination with either distal myopathy or Pagetic bone degeneration.〔 Most MSP patients present with weakness and of these ~65% present with motor neuron involvement.〔 Up to 30% of MSP patients may have exclusively motor neuron involvement.〔 Although MSP is rare, growing interest in this syndrome derives from the molecular insights the condition provides into the etiological relationship between common age-related degenerative diseases of muscle, bone and brain. It has been estimated that ~50% of MSP may be caused by missense mutations affecting the valosin-containing protein (VCP) gene. Additional genes linked to MSP include HNRNPA1, HNRNPA2B1, HNRNPDL, MATR3, DNAJB6, OPTN, and p62/SQSTM1. The histopathology of tissues affected by MSP include ubiquitin-positive cytoplasmic inclusions of RNA-binding proteins, such as TDP-43, hnRNPA1, hnRNPA2B1, and other components of RNA granules.
==References==
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