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Originally referred to as inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia (IBMPFD), attributed to mutations in the gene encoding valosin\u2010containing protein (VCP), it has more recently been discovered that there are several other genes responsible for similar clinical and pathological phenotypes with muscle, brain, nerve, and bone involvement, in various combinations. These include heterogeneous nuclear ribonucleoprotein A2B1 and A1 (<jats:italic>hnRNPA2B1<\/jats:italic>, <jats:italic>hnRNPA1<\/jats:italic>), sequestosome 1 (<jats:italic>SQSTM1<\/jats:italic>), matrin 3 (<jats:italic>MATR3<\/jats:italic>), T\u2010cell restricted intracellular antigen 1 (<jats:italic>TIA1<\/jats:italic>), and optineurin (<jats:italic>OPTN<\/jats:italic>), all of which share disruption of RNA stress granule function and autophagic degradation. This review will discuss each of the genes implicated in MSP, exploring the molecular pathogenesis, clinical features, current standards of care, and future directions for this diverse yet mechanistically linked spectrum of disorders.<\/jats:p>","DOI":"10.1002\/mus.27097","type":"journal-article","created":{"date-parts":[[2020,11,4]],"date-time":"2020-11-04T04:05:57Z","timestamp":1604462757000},"page":"442-454","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":64,"title":["Multisystem proteinopathy: Where myopathy and motor neuron disease converge"],"prefix":"10.1002","volume":"63","author":[{"given":"Manisha K.","family":"Korb","sequence":"first","affiliation":[{"name":"Departments of Neurology University of California Irvine  Orange California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginia E.","family":"Kimonis","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics University 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