The clinical spectrum of multisystem proteinopathy: Data from a neurodegenerative cohort.



“Multisystemic Proteinopathy” (MSP) is a genetic disorder that can affect muscle, bone, central and peripheral nervous system [1–3], associated with four causative genes, namely Valosin Containing Protein (VCP), Heterogeneous Nuclear Ribonucleoprotein A2/B1 (HNRNPA2B1), Heterogeneous Nuclear Ribonucleoprotein A1 (HNRNPA1) and Sequestosome 1 (SQSTM1). Classical phenotypes include Frontotemporal dementia (FTD), Paget disease of the bone (PBD) and inclusion body myopathy (IBM), mentioned together in the acronym “IBMPFD”, that share common pathophysiology.

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