ArticleMolecular genetics and metabolism2001
Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia.
Article in Molecular genetics and metabolism, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers, 1 of them a synthesis that pooled it.
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Who cites it
70 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A Brazilian family with inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia linked to the VCP pGly97Glu mutation.Clinical rheumatology · 2018Pooled it
- Utilization of CoRDS registry to monitor quality of life in patients with VCP multisystem proteinopathy.Orphanet journal of rare diseases · 2025Article
- 2024 VCP International Conference: Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein, to the therapeutic advancement for VCP-associated multisystem proteinopathy.Neurobiology of disease · 2025Review
- Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.Journal of neurology · 2023Article
- Article
- Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.Neurology. Genetics · 2023Article
- Novel variants, muscle imaging, and myopathological changes in Chinese patients with VCP-related multisystem proteinopathy.Molecular genetics & genomic medicine · 2023Article
- Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy.Annals of clinical and translational neurology · 2023Review
- FYCO1 Increase and Effect of Arimoclomol-Treatment in HumanBiomedicines · 2022Article
- Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.Journal of neurology, neurosurgery, and psychiatry · 2022Article
- A clinicopathologic study of malignancy in VCP-associated multisystem proteinopathy.Orphanet journal of rare diseases · 2022Article
- The Cure VCP Scientific Conference 2021: Molecular and clinical insights into neurodegeneration and myopathy linked to multisystem proteinopathy-1 (MSP-1).Neurobiology of disease · 2022Review
- Impact of APOE genotype on prion-type propagation of tauopathy.Acta neuropathologica communications · 2022Article
- Phenotype of VCP Mutations in Chinese Amyotrophic Lateral Sclerosis Patients.Frontiers in neurology · 2022Article
- Update on the pathogenesis and genetics of Paget's disease of bone.Frontiers in cell and developmental biology · 2022Review
- Structural insight into mutations at 155 position of valosin containing protein (VCP) linked to inclusion body myopathy with Paget disease of bone and frontotemporal Dementia.Saudi journal of biological sciences · 2021Article
- Article
- Neuroimaging in genetic frontotemporal dementia and amyotrophic lateral sclerosis.Neurobiology of disease · 2020Review
- VCP expression decrease as a biomarker of preclinical and early clinical stages of Parkinson's disease.Scientific reports · 2020Article
- Rare Inherited forms of Paget's Disease and Related Syndromes.Calcified tissue international · 2019Review
10 more citing papers are in PubMed but not listed here.
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19 authors.
Funding
Abstract
Autosomal dominant myopathy, Paget disease of bone, and dementia constitute a unique disorder (MIM 605382). Here we describe the clinical, biochemical, radiological, and pathological characteristics of 49 affected (23 male, 26 female) individuals from four unrelated United States families. Among these affected individuals 90% have myopathy, 43% have Paget disease of bone, and 37% have premature frontotemporal dementia. EMG shows myopathic changes and muscle biopsy reveals nonspecific myopathic changes or blue-rimmed vacuoles. After candidate loci were excluded, a genome-wide screen in the large Illinois family showed linkage to chromosome 9 (maximum LOD score 3.64 with marker D9S301). Linkage analysis with a high density of chromosome 9 markers generated a maximum two-point LOD score of 9.29 for D9S1791, with a maximum multipoint LOD score of 12.24 between D9S304 and D9S1788. Subsequent evaluation of three additional families demonstrating similar clinical characteristics confirmed this locus, refined the critical region, and further delineated clinical features of this unique disorder. Hence, autosomal dominant inclusion body myopathy (HIBM), Paget disease of bone (PDB), and frontotemporal dementia (FTD) localizes to a 1.08-6.46 cM critical interval on 9p13.3-12 in the region of autosomal recessive IBM2.
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