ArticleNeurology. Genetics2023
Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy.
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Article in Neurology. Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7citing papers in PubMed
2.1field-weighted citation impact, top 13% of its field
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Who cites it
7 citing papers in PubMed, 10 citations in OpenAlex.
- 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
- Gaps in biomedical research in frontotemporal dementia: A call for diversity and disparities focused research.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Review
- Alzheimer's disease and Alzheimer's disease-related dementias in Hispanics: Identifying influential factors and supporting caregivers.Ageing research reviews · 2024Review
- Valosin containing protein (VCP): initiator, modifier, and potential drug target for neurodegenerative diseases.Molecular neurodegeneration · 2023Review
- Novel Variants in theGenes · 2023Article
- Frontotemporal dementia in Hispanic populations: Regional and national comparisons.Alzheimer's & dementia (Amsterdam, Netherlands)Article
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Authors and funding
12 authors at 1 institution in 1 country.
Alyaa ShmaraDivision of Genetics and Genomic Medicine (A.S., R.P.M., A.C., R.I., V.K.), Department of Pediatrics, University of California, Irvine; Pediatric Radiology (L.G.), Department of Radiology, University of California, Irvine; Department of Pathology (K.H.), LAC + USC and Keck School of Medicine, University of Southern California, Los Angeles; Department of Pathology (V.S.G., D.P.P.), University of California, San Diego; Cure VCP Disease (J.B.), previously at Diagnostic Radiology, Tripler Army Medical Center, Honolulu, HI; Department of Genetics (C.L.), Carle Clinic and Carle Illinois College of Medicine, Urbana; and Department of Neurology (S.M.), Cedars Sinai Medical Center, Los Angeles, CA.ORCID https://orcid.org/0000-0001-8667-6754
Liliane GibbsDivision of Genetics and Genomic Medicine (A.S., R.P.M., A.C., R.I., V.K.), Department of Pediatrics, University of California, Irvine; Pediatric Radiology (L.G.), Department of Radiology, University of California, Irvine; Department of Pathology (K.H.), LAC + USC and Keck School of Medicine, University of Southern California, Los Angeles; Department of Pathology (V.S.G., D.P.P.), University of California, San Diego; Cure VCP Disease (J.B.), previously at Diagnostic Radiology, Tripler Army Medical Center, Honolulu, HI; Department of Genetics (C.L.), Carle Clinic and Carle Illinois College of Medicine, Urbana; and Department of Neurology (S.M.), Cedars Sinai Medical Center, Los Angeles, CA.
Ryan Patrick MahoneyDivision of Genetics and Genomic Medicine (A.S., R.P.M., A.C., R.I., V.K.), Department of Pediatrics, University of California, Irvine; Pediatric Radiology (L.G.), Department of Radiology, University of California, Irvine; Department of Pathology (K.H.), LAC + USC and Keck School of Medicine, University of Southern California, Los Angeles; Department of Pathology (V.S.G., D.P.P.), University of California, San Diego; Cure VCP Disease (J.B.), previously at Diagnostic Radiology, Tripler Army Medical Center, Honolulu, HI; Department of Genetics (C.L.), Carle Clinic and Carle Illinois College of Medicine, Urbana; and Department of Neurology (S.M.), Cedars Sinai Medical Center, Los Angeles, CA.
Kyle HurthDivision of Genetics and Genomic Medicine (A.S., R.P.M., A.C., R.I., V.K.), Department of Pediatrics, University of California, Irvine; Pediatric Radiology (L.G.), Department of Radiology, University of California, Irvine; Department of Pathology (K.H.), LAC + USC and Keck School of Medicine, University of Southern California, Los Angeles; Department of Pathology (V.S.G., D.P.P.), University of California, San Diego; Cure VCP Disease (J.B.), previously at Diagnostic Radiology, Tripler Army Medical Center, Honolulu, HI; Department of Genetics (C.L.), Carle Clinic and Carle Illinois College of Medicine, Urbana; and Department of Neurology (S.M.), Cedars Sinai Medical Center, Los Angeles, CA.
Vanessa S GoodwillDivision of Genetics and Genomic Medicine (A.S., R.P.M., A.C., R.I., V.K.), Department of Pediatrics, University of California, Irvine; Pediatric Radiology (L.G.), Department of Radiology, University of California, Irvine; Department of Pathology (K.H.), LAC + USC and Keck School of Medicine, University of Southern California, Los Angeles; Department of Pathology (V.S.G., D.P.P.), University of California, San Diego; Cure VCP Disease (J.B.), previously at Diagnostic Radiology, Tripler Army Medical Center, Honolulu, HI; Department of Genetics (C.L.), Carle Clinic and Carle Illinois College of Medicine, Urbana; and Department of Neurology (S.M.), Cedars Sinai Medical Center, Los Angeles, CA.
Alicia CuberDivision of Genetics and Genomic Medicine (A.S., R.P.M., A.C., R.I., V.K.), Department of Pediatrics, University of California, Irvine; Pediatric Radiology (L.G.), Department of Radiology, University of California, Irvine; Department of Pathology (K.H.), LAC + USC and Keck School of Medicine, University of Southern California, Los Angeles; Department of Pathology (V.S.G., D.P.P.), University of California, San Diego; Cure VCP Disease (J.B.), previously at Diagnostic Radiology, Tripler Army Medical Center, Honolulu, HI; Department of Genetics (C.L.), Carle Clinic and Carle Illinois College of Medicine, Urbana; and Department of Neurology (S.M.), Cedars Sinai Medical Center, Los Angeles, CA.
Regina ImDivision of Genetics and Genomic Medicine (A.S., R.P.M., A.C., R.I., V.K.), Department of Pediatrics, University of California, Irvine; Pediatric Radiology (L.G.), Department of Radiology, University of California, Irvine; Department of Pathology (K.H.), LAC + USC and Keck School of Medicine, University of Southern California, Los Angeles; Department of Pathology (V.S.G., D.P.P.), University of California, San Diego; Cure VCP Disease (J.B.), previously at Diagnostic Radiology, Tripler Army Medical Center, Honolulu, HI; Department of Genetics (C.L.), Carle Clinic and Carle Illinois College of Medicine, Urbana; and Department of Neurology (S.M.), Cedars Sinai Medical Center, Los Angeles, CA.
Donald P PizzoDivision of Genetics and Genomic Medicine (A.S., R.P.M., A.C., R.I., V.K.), Department of Pediatrics, University of California, Irvine; Pediatric Radiology (L.G.), Department of Radiology, University of California, Irvine; Department of Pathology (K.H.), LAC + USC and Keck School of Medicine, University of Southern California, Los Angeles; Department of Pathology (V.S.G., D.P.P.), University of California, San Diego; Cure VCP Disease (J.B.), previously at Diagnostic Radiology, Tripler Army Medical Center, Honolulu, HI; Department of Genetics (C.L.), Carle Clinic and Carle Illinois College of Medicine, Urbana; and Department of Neurology (S.M.), Cedars Sinai Medical Center, Los Angeles, CA.
Jerry BrownDivision of Genetics and Genomic Medicine (A.S., R.P.M., A.C., R.I., V.K.), Department of Pediatrics, University of California, Irvine; Pediatric Radiology (L.G.), Department of Radiology, University of California, Irvine; Department of Pathology (K.H.), LAC + USC and Keck School of Medicine, University of Southern California, Los Angeles; Department of Pathology (V.S.G., D.P.P.), University of California, San Diego; Cure VCP Disease (J.B.), previously at Diagnostic Radiology, Tripler Army Medical Center, Honolulu, HI; Department of Genetics (C.L.), Carle Clinic and Carle Illinois College of Medicine, Urbana; and Department of Neurology (S.M.), Cedars Sinai Medical Center, Los Angeles, CA.
Christina LaukaitisDivision of Genetics and Genomic Medicine (A.S., R.P.M., A.C., R.I., V.K.), Department of Pediatrics, University of California, Irvine; Pediatric Radiology (L.G.), Department of Radiology, University of California, Irvine; Department of Pathology (K.H.), LAC + USC and Keck School of Medicine, University of Southern California, Los Angeles; Department of Pathology (V.S.G., D.P.P.), University of California, San Diego; Cure VCP Disease (J.B.), previously at Diagnostic Radiology, Tripler Army Medical Center, Honolulu, HI; Department of Genetics (C.L.), Carle Clinic and Carle Illinois College of Medicine, Urbana; and Department of Neurology (S.M.), Cedars Sinai Medical Center, Los Angeles, CA.
Shalini MahajanDivision of Genetics and Genomic Medicine (A.S., R.P.M., A.C., R.I., V.K.), Department of Pediatrics, University of California, Irvine; Pediatric Radiology (L.G.), Department of Radiology, University of California, Irvine; Department of Pathology (K.H.), LAC + USC and Keck School of Medicine, University of Southern California, Los Angeles; Department of Pathology (V.S.G., D.P.P.), University of California, San Diego; Cure VCP Disease (J.B.), previously at Diagnostic Radiology, Tripler Army Medical Center, Honolulu, HI; Department of Genetics (C.L.), Carle Clinic and Carle Illinois College of Medicine, Urbana; and Department of Neurology (S.M.), Cedars Sinai Medical Center, Los Angeles, CA.
Virginia KimonisDivision of Genetics and Genomic Medicine (A.S., R.P.M., A.C., R.I., V.K.), Department of Pediatrics, University of California, Irvine; Pediatric Radiology (L.G.), Department of Radiology, University of California, Irvine; Department of Pathology (K.H.), LAC + USC and Keck School of Medicine, University of Southern California, Los Angeles; Department of Pathology (V.S.G., D.P.P.), University of California, San Diego; Cure VCP Disease (J.B.), previously at Diagnostic Radiology, Tripler Army Medical Center, Honolulu, HI; Department of Genetics (C.L.), Carle Clinic and Carle Illinois College of Medicine, Urbana; and Department of Neurology (S.M.), Cedars Sinai Medical Center, Los Angeles, CA.ORCID https://orcid.org/0000-0003-1567-4449
University of Southern California · US
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background and Objectives: Missense variants of the valosin-containing protein ( Methods: We report detailed clinical findings of 11 patients in 5 Hispanic families with the c.476G > A, p.R159H Results: FTD was the most prevalent feature reported, particularly frequent in females. PDB was only seen in 1 patient in contrast to the earlier reported cohorts. The overall frequency of the different manifestations: myopathy, PDB, FTD, and ALS in these 5 families was 39%, 3%, 72%, and 8%, respectively. The atypical phenotype and later onset of manifestations in these families resulted in a noticeable delay in the diagnosis of VCP disease. Discussion: Studying each
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