Clinical and Pathological Phenotypes of LRP10 Variant Carriers with Dementia
| العنوان: | Clinical and Pathological Phenotypes of LRP10 Variant Carriers with Dementia |
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| المؤلفون: | Hanneke Geut, John C. van Swieten, Vincenzo Bonifati, Annemieke J.M. Rozemuller, Guido J. Breedveld, Frank Jan de Jong, Leonie J.M. Vergouw, Wilma D.J. van de Berg, Netherlands Brain Bank, Demy J.S. Kuipers, Marialuisa Quadri |
| المساهمون: | Neurology, Clinical Genetics, Netherlands Institute for Neuroscience (NIN), Amsterdam Neuroscience - Neurodegeneration, Anatomy and neurosciences, Pathology, Human genetics |
| المصدر: | Netherlands Brain Bank 2020, ' Clinical and Pathological Phenotypes of LRP10 Variant Carriers with Dementia ', Journal of Alzheimer's disease : JAD, vol. 76, no. 3, pp. 1161-1170 . https://doi.org/10.3233/JAD-200318Test, https://doi.org/10.3233/JAD-200318Test Journal of Alzheimer's Disease, 76(3), 1161-1170. IOS Press BV Journal of Alzheimer's Disease Journal of Alzheimer's Disease, 76, 1161-1170. IOS Press Journal of Alzheimer's disease : JAD, 76(3), 1161-1170. IOS Press |
| بيانات النشر: | IOS Press, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Lewy Body Disease, Male, 0301 basic medicine, Heterozygote, LRP10, phenotype, genotype, Genetic predisposition to disease, Disease, Neuropathology, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Alzheimer Disease, mental disorders, medicine, Humans, Dementia, Family history, Pathological, LDL-Receptor Related Proteins, Aged, Aged, 80 and over, neuropathology, business.industry, Dementia with Lewy bodies, General Neuroscience, Parkinsonism, Brain, Parkinson Disease, General Medicine, medicine.disease, Psychiatry and Mental health, Clinical Psychology, 030104 developmental biology, Etiology, Female, Geriatrics and Gerontology, business, 030217 neurology & neurosurgery, Research Article |
| الوصف: | Background: Rare variants in the low-density lipoprotein receptor related protein 10 gene (LRP10) have recently been implicated in the etiology of Parkinson’s disease (PD) and dementia with Lewy bodies (DLB). Objective: We searched for LRP10 variants in a new series of brain donors with dementia and Lewy pathology (LP) at autopsy, or dementia and parkinsonism without LP but with various other neurodegenerative pathologies. Methods: Sanger sequencing of LRP10 was performed in 233 donors collected by the Netherlands Brain Bank. Results: Rare, possibly pathogenic heterozygous LRP10 variants were present in three patients: p.Gly453Ser in a patient with mixed Alzheimer’s disease (AD)/Lewy body disease (LBD), p.Arg151Cys in a DLB patient, and p.Gly326Asp in an AD patient without LP. All three patients had a positive family history for dementia or PD. Conclusion: Rare LRP10 variants are present in some patients with dementia and different brain pathologies including DLB, mixed AD/LBD, and AD. These findings suggest a role for LRP10 across a broad neurodegenerative spectrum. |
| وصف الملف: | application/pdf |
| تدمد: | 1875-8908 1387-2877 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d730f760a5a5ad8a373a14be6988144bTest https://doi.org/10.3233/jad-200318Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....d730f760a5a5ad8a373a14be6988144b |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 18758908 13872877 |
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