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Journal Review: Multisystem proteinopathy: Where myopathy and motor neuron disease converge
Journal Review: Multisystem proteinopathy: Where myopathy and motor neuron disease converge

Multisystem proteinopathy (MSP) is a pleiotropic group of inherited disorders that cause neurodegeneration, myopathy, and bone disease, and share common patho-physiology. 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-containing protein (VCP), it has more recently been discov-ered that there are several other genes responsible for similar clinical and pathological phenotypes with muscle, brain, nerve, and bone involvement, in various combina-tions. These include heterogeneous nuclear ribonucleoprotein A2B1 and A1 (hnRNPA2B1, hnRNPA1), sequestosome 1 (SQSTM1), matrin 3 (MATR3), T-cell restricted intracellular antigen 1 (TIA1), and optineurin (OPTN), all of which share dis-ruption 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.

The AANEM is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

The AANEM designates this enduring material for a maximum of 1 AMA PRA Category 1 Credits TM.  Physicians should claim only the credit commensurate with the extent of their participation in the activity. Credit expires 4/1/2024.

No one involved in the planning of this CME activity had any relevant financial relationships to disclose. Any conflicts have been resolved by the Journal in accordance with the Muscle & Nerve editorial process.

Manisha K. Korb, MD; Virginia E. Kimonis, MD; Tahseen Mozaffar, MD.
Availability: On-Demand
Expires on Apr 13, 2024
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Credit Offered:
1 CME Credit
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