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.

Source link

Comments are closed.

This website uses cookies to improve your experience. We'll assume you're ok with this, but you can opt-out if you wish. Accept Read More

Privacy & Cookies Policy