Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation

Bersano, Anna; Bo, Roberto Del; Lamperti, Costanza; Ghezzi, Serena; Fagiolari, Gigliola; Fortunato, Francesco; Ballabio, E.; Moggio, Maurizio; Candelise, Livia; Galimberti, Daniela; Virgilio, R.; Lanfranconi, Silvia; Torrente, Yvan; Carpo, M.; Bresolin, Nereo; Comi, Giacomo P.; Corti, Stefania

doi:10.1016/j.neurobiolaging.2007.08.009

Cited by 61 publications

(41 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Cumulatively, the familial inclusion body myopathies show heterogeneous patterns of inheritance and may present even when there is no family history as a result of recessive inheritance, an incomplete penetrance of the dominant inheritance, or de novo mutations. This explains reports of non-familial, sporadic cases with mutations in these genes [8,16,17].…”

Section: Introductionmentioning

confidence: 83%

Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people

et al. 2012

View full text Add to dashboard Cite

Previous studies have identified several genetic loci associated with development of familial inclusion body myopathy. However, there have been few genetic analyses of sporadic inclusion body myositis (sIBM). In order to explore the molecular basis of sIBM and to investigate genotype-phenotype correlations, we performed a clinicopathological analysis of 21 sIBM patients and screened for mutations in the However, we advocate further clinicopathology and investigation of additional candidate genes in a larger cohort.

show abstract

Section: Introductionmentioning

confidence: 83%

Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people

et al. 2012

View full text Add to dashboard Cite

show abstract

“…13 Reported description of the electromyographic (EMG) findings in genetically proven hIBM patients show some resemblance to those encountered in sIBM with essentially mixed myopathic and neurogenic features. 9,[13][14][15][16][17][18][19][20][21][22][23][24][25][26] In this study, we describe the clinical and electrophysiological features of hIBM subjects in comparison with their sIBM counterparts to identify differences that might help the clinical differential diagnosis.…”

Section: Introductionmentioning

confidence: 99%

Clinical and Electrophysiological Findings in Hereditary Inclusion Body Myopathy Compared With Sporadic Inclusion Body Myositis

Kazamel

Sorenson

Milone

2016

Journal of Clinical Neuromuscular Disease

View full text Add to dashboard Cite

show abstract

“…IBMPFD cases have been reported in German(Djamshidian et al 2009; Kimonis et al 2008b;Schroder et al 2005), Italian(Bersano et al 2009; Gidaro et al. 2008), French, Spanish(Stojkovic et al 2009), Austrian (Haubenberger et al 2005), Belgian (van der Zee et al 2009), Brazilian (Fanganiello et al 2011), British (Miller et al 2009; Rohrer et al 2011), Australian (Kumar et al 2010), and Korean (Kim et al 2011) patients.…”

mentioning

confidence: 99%

The Multiple Faces of Valosin-Containing Protein-Associated Diseases: Inclusion Body Myopathy with Paget’s Disease of Bone, Frontotemporal Dementia, and Amyotrophic Lateral Sclerosis

et al. 2011

View full text Add to dashboard Cite

Inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia (IBMPFD) is a progressive, fatal genetic disorder with variable penetrance, predominantly affecting three main tissue types: muscle (IBM), bone (PDB), and brain (FTD). IBMPFD is caused by mutations in the ubiquitously expressed valosin-containing protein (VCP) gene, a member of the AAA-ATPase superfamily. The majority of individuals who develop IBM have progressive proximal muscle weakness. Muscle biopsies reveal rimmed vacuoles and inclusions that are ubiquitin- and TAR DNA binding protein-43 (TDP-43)-positive using immunohistochemistry. PDB, seen in half the individuals, is caused by overactive osteoclasts and is associated clinically with pain, elevated serum alkaline phosphatase, and X-ray findings of coarse trabeculation and sclerotic lesions. FTD diagnosed at a mean age of 55 years in a third of individuals is characterized clinically by comprehension deficits, dysnomia, dyscalculia, and social unawareness. Ubiquitin- and TDP-43-positive neuronal inclusions are also found in the brain. Genotype-phenotype correlations are difficult with marked intra-familial and inter-familial variations being seen. Varied phenotypes within families include frontotemporal dementia, amyotrophic lateral sclerosis, Parkinsonism, myotonia, cataracts, and anal incompetence, among others. Cellular and animal models indicate pathogenetic disturbances in IBMPFD tissues including altered protein degradation, autophagy pathway alterations, apoptosis, and mitochondrial dysfunction. Currently, mouse and drosophila models carrying VCP mutations provide insights into the human IBMPFD pathology and are useful as tools for preclinical studies and testing of therapeutic strategies. In this review, we will explore the pathogenesis and clinical phenotype of IBMPFD caused by VCP mutations.

show abstract

Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation

Cited by 61 publications

References 17 publications

Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people

Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people

Clinical and Electrophysiological Findings in Hereditary Inclusion Body Myopathy Compared With Sporadic Inclusion Body Myositis

The Multiple Faces of Valosin-Containing Protein-Associated Diseases: Inclusion Body Myopathy with Paget’s Disease of Bone, Frontotemporal Dementia, and Amyotrophic Lateral Sclerosis

Contact Info

Product

Resources

About