Heteromeric p97/p97R155C complexes induce dominant negative changes in wild-type and autophagy 9-deficient Dictyostelium strains. by Khalid Arhzaouy, Karl-Heinz Strucksberg, Sze Man Tung, Karthikeyan Tangavelou, Maria Stumpf, Jan Faix, Rolf Schröder, Christoph S Clemen, Ludwig Eichinger

“…Heterozygous mutations in the human VCP (p97) gene cause autosomal-dominant IBMPFD (inclusion body myopathy with early onset Paget's disease of bone and frontotemporal dementia), ALS14 (amyotrophic lateral sclerosis with or without frontotemporal dementia) and HSP (hereditary spastic paraplegia). …”
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Multisystem Proteinopathy Due to <i>VCP</i> Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis by Gerald Pfeffer, Grace Lee, Carly S. Pontifex, Roberto D. Fanganiello, Allison Peck, Conrad C. Weihl, Virginia Kimonis

“…Non-neurological presentations include Paget disease of bone and may also include cardiac dysfunction. …”
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Rapamycin and chloroquine: the in vitro and in vivo effects of autophagy-modifying drugs show promising results in valosin containing protein multisystem proteinopathy. by Angèle Nalbandian, Katrina J Llewellyn, Christopher Nguyen, Puya G Yazdi, Virginia E Kimonis

“…Mutations in the valosin containing protein (VCP) gene cause hereditary Inclusion body myopathy (hIBM) associated with Paget disease of bone (PDB), frontotemporal dementia (FTD), more recently termed multisystem proteinopathy (MSP). …”
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The involvement of endoplasmic reticulum formation and protein synthesis efficiency in VCP- and ATL1-related neurological disorders by Yu-Tzu Shih, Yi-Ping Hsueh

“…Among these genes, mutations in VCP gene involve in inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD), familial amyotrophic lateral sclerosis (ALS), autism spectrum disorders (ASD), and hereditary spastic paraplegia (HSP). …”
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A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. by Philippe Cloutier, Mathieu Lavallée-Adam, Denis Faubert, Mathieu Blanchette, Benoit Coulombe

“…This stimulatory effect was lost when we used VCP mutants (R155H, R159G, and R191Q) known to cause Inclusion Body Myopathy with Paget's disease of bone and Fronto-temporal Dementia (IBMPFD) and/or familial Amyotrophic Lateral Sclerosis (ALS). …”
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Bisphosphonates: an update on mechanisms of action and how these relate to clinical efficacy. by Russell, R, Xia, Z, Dunford, J, Oppermann, U, Kwaasi, A, Hulley, P, Kavanagh, K, Triffitt, J, Lundy, M, Phipps, R, Barnett, B, Coxon, F, Rogers, M, Watts, N, Ebetino, F

“…The bisphosphonates (BPs) are well established as the treatments of choice for disorders of excessive bone resorption, including Paget's disease of bone, myeloma and bone metastases, and osteoporosis. …”

Adult‐onset dominant muscular dystrophy in Greek families caused by Annexin A11 by Mridul Johari, George Papadimas, Constantinos Papadopoulos, Sophia Xirou, Aikaterini Kanavaki, Margarita Chrysanthou‐Piterou, Salla Rusanen, Marco Savarese, Peter Hackman, Bjarne Udd

“…Results In our study, all patients presented with an autosomal dominant muscular dystrophy without any Paget disease of bone nor signs of frontotemporal dementia or Parkinson's disease. …”
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Nationwide survey of patients with multisystem proteinopathy in Japan by Satoshi Yamashita, Yuji Takahashi, Jun Hashimoto, Ayuka Murakami, Ryoichi Nakamura, Masahisa Katsuno, Rumiko Izumi, Naoki Suzuki, Hitoshi Warita, Masashi Aoki, the Japan MSP Study Group

“…In the secondary survey of 27 patients, inclusion body myopathy was the most common initial symptom (74.1%), followed by motor neuron disease (11.1%), frontotemporal dementia (FTD, 7.4%), and Paget's disease of bone (PDB, 7.4%), with no cases of parkinsonism. …”
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An incidental finding of the Lincoln sign on FDG PET-CT in a patient with rectosigmoid adenocarcinoma giving rise to the diagnosis of Paget's disease by Muhammad Adib Abdul Onny, Sheila Shazlina Kemis Yahyah, Kavita Arumugam, Nor Salita Ali, Nashrulhaq Tagiling, Norazlina Mat Nawi

“…Bone scintigraphy with 99mTc-labeled radiotracers is commonly used to assess disease extent, and one of the classical findings of Paget's disease on bone scintigraphy is diffuse radiotracer uptake in the mandible bone, widely described as Lincoln or Black Beard sign. …”
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A Clinical Perspective on Advanced Developments in Bone Biopsy Assessment in Rare Bone Disorders by Sanne Treurniet, Elisabeth M. W. Eekhoff, Felix N. Schmidt, Dimitra Micha, Björn Busse, Nathalie Bravenboer

“…In this review, we give an overview of the application and advantages of the advanced techniques for the analysis of bone biopsies in the clinical setting of various rare metabolic bone diseases.Method: A systematic literature search on rare metabolic bone diseases and analyzing techniques of bone biopsies was performed in PubMed up to 2019 week 34.Results: Advanced techniques for the analysis of bone biopsies were described for rare metabolic bone disorders including Paget's disease of bone, osteogenesis imperfecta, fibrous dysplasia, Fibrodysplasia ossificans progressiva, PLS3 X-linked osteoporosis, Loeys-Diets syndrome, osteopetrosis, Erdheim-Chester disease, and Cherubism. …”
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Multisystem proteinopathies (MSPs) and MSP‐like disorders: Clinical‐pathological‐molecular spectrum by Pitcha Chompoopong, Björn Oskarsson, Nicolas N. Madigan, Igal Mirman, Jennifer M. Martinez‐Thompson, Teerin Liewluck, Margherita Milone

“…They share pathological findings of protein aggregation and clinical combinations of inclusion body myopathy (IBM), neurodegeneration [motor neuron disorder (MND)/frontotemporal dementia (FTD)], and Paget disease of bone (PDB). Subsequently, additional genes were linked to similar but not full clinical‐pathological spectrum (MSP‐like disorders). …”
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Diversity of <i>VCP</i>-related phenotypes: case report and literature review by G. E. Rudenskaya, O. L. Mironovich, A. F. Murtazina, O. A. Shchagina

“…Gene VCP encoding multifunctional protein valosin produces a number of rare autosomal dominant late-onset disorders with multiple symptoms (muscular dystrophy with inclusion bodies in part of cases, Paget disease of bone, frontotemporal dementia, amyotrophic lateral sclerosis and few others) in different combinations often varying in one family. …”
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Genetic counselling and testing for inherited dementia: single-centre evaluation of the consensus Italian DIAfN protocol by Anna Mega, Samantha Galluzzi, Cristian Bonvicini, Silvia Fostinelli, Massimo Gennarelli, Cristina Geroldi, Orazio Zanetti, Luisa Benussi, Emilio Di Maria, Giovanni B. Frisoni

“…Results Twenty affected individuals from 17 families fulfilled the family history criteria of the IT-DIAfN protocol for suspected inherited dementia (17 for AD, 2 for FTD, 1 for inclusion body myopathy with Paget disease of bone and frontotemporal dementia) and were included in the protocol. …”
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VCP/p97 inhibitor CB-5083 modulates muscle pathology in a mouse model of VCP inclusion body myopathy by Cheng Cheng, Lan Weiss, Henri Leinonen, Alyaa Shmara, Hong Z. Yin, Timothy Ton, Annie Do, Jonathan Lee, Lac Ta, Eshanee Mohanty, Jesse Vargas, John Weiss, Krzysztof Palczewski, Virginia Kimonis

“…Abstract Background Pathogenic gain of function variants in Valosin-containing protein (VCP) cause a unique disease characterized by inclusion body myopathy with early-onset Paget disease of bone and frontotemporal dementia (also known as Multisystem proteinopathy (MSP)). …”
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Increased Neurofilament Light Chain and YKL-40 CSF Levels in One Japanese IBMPFD Patient With VCP R155C Mutation: A Clinical Case Report With CSF Biomarker Analyses by Masaki Ikeda, Takeo Kuwabara, Eriko Takai, Hiroo Kasahara, Minori Furuta, Akiko Sekine, Kouki Makioka, Tsuneo Yamazaki, Yukio Fujita, Kazuaki Nagashima, Tetsuya Higuchi, Yoshito Tsushima, Yoshio Ikeda

“…Inclusion body myopathy (IBM) with Paget's disease of bone (PDB) and frontotemporal dementia (IBMPFD) presents with multiple symptoms and an unknown etiology. …”
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Bisphosphonates: the first 40 years. by Russell, R

“…As reviewed elsewhere in this issue, bisphosphonates are established as the treatments of choice for various diseases of excessive bone resorption, including Paget's disease of bone, the skeletal complications of malignancy, and osteoporosis. …”