The DOI matches its Crossref record; 283 of the 290 references it cites were found in a registry or an index.
A review of quality of life after predictive testing for and earlier identification of neurodegenerative diseases
Open accessAbstract
The past decade has witnessed an explosion of evidence suggesting that many neurodegenerative diseases can be detected years, if not decades, earlier than previously thought. To date, these scientific advances have not provoked any parallel translational or clinical improvements. There is an urgency to capitalize on this momentum so earlier detection of disease can be more readily translated into improved health-related quality of life for families at risk for, or suffering with, neurodegenerative diseases. In this review, we discuss health-related quality of life (HRQOL) measurement in neurodegenerative diseases and the importance of these "patient reported outcomes" for all clinical research. Next, we address HRQOL following early identification or predictive genetic testing in some neurodegenerative diseases: Huntington disease, Alzheimer's disease, Parkinson's disease, Dementia with Lewy bodies, frontotemporal dementia, amyotrophic lateral sclerosis, prion diseases, hereditary ataxias, Dentatorubral-pallidoluysian atrophy and Wilson's disease. After a brief report of available direct-to-consumer genetic tests, we address the juxtaposition of earlier disease identification with assumed reluctance toward predictive genetic testing. Forty-one studies examining health-related outcomes following predictive genetic testing for neurodegenerative disease suggested that (a) extreme or catastrophic outcomes are rare; (b) consequences commonly include transiently increased anxiety and/or depression; (c) most participants report no regret; (d) many persons report extensive benefits to receiving genetic information; and (e) stigmatization and discrimination for genetic diseases are poorly understood and policy and laws are needed. Caution is appropriate for earlier identification of neurodegenerative diseases but findings suggest further progress is safe, feasible and likely to advance clinical care.
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Citations
Cites
Principles of Biomedical Ethics
(2012) · Thieves of Virtue · doi:10.7551/mitpress/9079.003.0009 · Cited by 13,453
Amyloid oligomers exacerbate tau pathology in a mouse model of tauopathy
Selenica, M.-L. B., Brownlow, M., Jimenez, J. P., Lee, D. C., Pena, G., Dickey, C. A., Gordon, M. N., & Morgan, D. (2013) · Neurodegenerative Diseases · doi:10.1159/000337230 · Cited by 10,359
MACDONALD, M. (1993) · Cell · doi:10.1016/0092-8674(93)90585-e · Cited by 8,366
Finding the missing heritability of complex diseases
Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., McCarthy, M. I., Ramos, E. M., Cardon, L. R., Chakravarti, A., et al. (2009) · Nature · doi:10.1038/nature08494 · Cited by 8,336
Cella, D., Riley, W., Stone, A., Rothrock, N., Reeve, B., Yount, S., Amtmann, D., Bode, R., Buysse, D., Choi, S., et al. (2010) · Journal of Clinical Epidemiology · doi:10.1016/j.jclinepi.2010.04.011 · Cited by 5,128
DeJesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N. J., Nicholson, A. M., Finch, N. A., Flynn, H., Adamson, J., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.09.011 · Cited by 4,936
Goate, A., Chartier-Harlin, M.-C., Mullan, M., Brown, J., Crawford, F., Fidani, L., Giuffra, L., Haynes, A., Irving, N., James, L., et al. (1991) · Nature · doi:10.1038/349704a0 · Cited by 4,659
The Sickness Impact Profile: Development and Final Revision of a Health Status Measure
Bergner, M., Bobbitt, R. A., Carter, W. B., & Gilson, B. S. (1981) · Medical Care · doi:10.1097/00005650-198108000-00001 · Cited by 4,619
Classificação Internacional de Funcionalidade (CIF)
Battistella, L. R., & de Brito, C. M. M. (2002) · Acta Fisiátrica · doi:10.5935/0104-7795.20020003 · Cited by 4,470
(1994) · Medical Entomology and Zoology · Cited by 4,156
Research works printed but not linked: 6
- Cassidy, 2008, Comparing test-specific distress of susceptibility versus deterministic genetic testing for Alzheimer's disease, Alzheimer's Dementia: J. Alzheimer's Assoc., 4, 406, 10.1016/j.jalz.2008.04.007 · DOI
- Cella, 2010, The Patient-Reported Outcomes Measurement Information System (PROMIS) developed and tested its first wave of adult self-reported health outcome item banks: 2005–2008, J. Clin. Epidemiol., 63, 1179, 10.1016/j.jclinepi.2010.04.011 · DOI · Paper page
- Huntington, 1872, On chorea, Med. Surg. Rep. Phila., 26, 317
- Patrick, 1988, What constitutes quality of life?. Concepts and dimensions, Clin. Nutr., 7, 53
- Rothstein, 2007, Genetic Information Nondiscirimination Act is a first step; won’t solve the problem, CCH Labor Law Rep., 950
- Wahlin, 1998, Reactions to predictive testing in Huntington disease: case reports of coping with a new genetic status, Am. J. Med. Genet., 73, 356, 10.1002/(SICI)1096-8628(19971219)73:3<356::AID-AJMG24>3.0.CO;2-H · DOI
Cited by
Sorted by citations
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Galluzzi, S., Mega, A., Fede, G. D., Muscio, C., Fascendini, S., Benussi, L., Tagliavini, F., The Italian-DIAfN Working Group, Frisoni, G. B., & Maria, E. D. (2022) · Alzheimer Disease & Associated Disorders · doi:10.1097/wad.0000000000000494 · Cited by 7
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Goldman, J. S., Xie, S., Green, D., Naini, A., MANSUKHANI, M. M., & Marder, K. S. (2020) · Journal of Genetic Counseling · doi:10.1002/jgc4.1342 · Cited by 7
Gupta, V., Chitranshi, N., & Gupta, V. B. (2024) · Aging and Disease · doi:10.14336/ad.2024.0986 · Cited by 7
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Summers, D., Spencer, K. A., Okasaki, C., & Huber, J. E. (2024) · Journal of Speech Language and Hearing Research · doi:10.1044/2024_jslhr-23-00621 · Cited by 7
Park, C. H., Yang, P.-S., Yoon, Y. S., & Ra, J.-C. (2018) · Journal of Ethnopharmacology · doi:10.1016/j.jep.2018.12.031 · Cited by 6
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Dratch, L., Mu, W., Wood, E. M., Morgan, B. E., Massimo, L. M., Clyburn, C., Bardakjian, T., Grossman, M., Irwin, D. J., & Cousins, K. A. Q. (2022) · PEC Innovation · doi:10.1016/j.pecinn.2022.100108 · Cited by 5
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Feasibility of Huntington disease trials in the disease prodrome
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Karagianis, J. L. (2022) · Movement Disorders · doi:10.1002/mds.29038 · Cited by 3
Hartz, S. M., Goswami, S., Oliver, A., Evans, A., Jackson, S., Linnenbringer, E. L., Moulder, K. L., Morris, J. C., & Mozersky, J. T. (2024) · medRxiv · doi:10.1101/2024.07.01.24309801 · Cited by 3
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Kwon, J., Schoutens, L., Burden, M., Colam, C., Zhao, S., Maldonado, B. N., Blundell, E., Krywonos, A., Jiang, J., Karagiannidou, M., et al. (2025) · Alzheimer s & Dementia Behavior & Socioeconomics of Aging · doi:10.1002/bsa3.70027 · Cited by 2
Hartz, S. M., Goswami, S., Oliver, A. I., Evans, A., Jackson, S., Linnenbringer, E. L., Moulder, K. L., Morris, J. C., & Mozersky, J. T. (2026) · BMJ Open · doi:10.1136/bmjopen-2025-099970 · Cited by 5
Rensink, M. J., Bolt, I. L. L. E., Tibben, A., Oosterloo, M., van de Warrenburg, B. P. C., & Schermer, M. (2026) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-026-04396-1 · Cited by 2
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Gerards, M., Baumeister, A., Hübner, C., Ribaldi, F., Cantero‐Fortiz, Y., Braun, J., Boada, M., Frisoni, G. B., Jessen, F., Schmitz‐Luhn, B., et al. (2025) · PLoS ONE · doi:10.1371/journal.pone.0319868 · Cited by 2
Groves, M. (2017) · Handbook of clinical neurology · doi:10.1016/b978-0-12-801893-4.00008-0 · Cited by 2
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Henn, W. (2016) · Springer eBooks · doi:10.1007/978-3-662-49916-0_5 · Cited by 1
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Hostiuc, S., Negoi, I., Rusu, M. C., & Hostiuc, M. (2023) · Elsevier eBooks · doi:10.1016/b978-0-443-19045-2.00021-0 · Cited by 1
Tibben, A., & Biesecker, B. B. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-813335-4.00001-5 · Cited by 1
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Mitrea, G. (2021) · Logos Universality Mentality Education Novelty SOCIAL SCIENCES · doi:10.18662/lumenss/10.1/58 · Cited by 1
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Ahmed, O. M., & Gaber, A. M. (2025) · Springer eBooks · doi:10.1007/978-3-031-40858-8_417-1 · Cited by 2
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Erwin, C. J. (2018)
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Biesecker, B. B., & Tibben, A. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-813335-4.00013-1
Handels, R. L. H., Zwan, M. D., Pelkmans, W., Biessels, G. J., van Domburg, P., Hoff, E. I., Roks, G., Schoonenboom, N. S. M., Verweij, N., van Berckel, B. N. M., et al. (2021) · medRxiv · doi:10.1101/2021.11.30.21266815
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Halpin, M. (2021) · Springer eBooks · doi:10.1007/978-3-030-12852-4_5-1
Rodríguez‐Agudelo, Y., Chávez-Oliveros, M., Ochoa, A., Martínez‐Ruano, L., Camacho‐Molina, A., & Paz-Rodríguez, F. (2022) · Neurología · doi:10.1016/j.nrl.2022.06.007
Sherzai, D. (2021) · Digital Commons - Andrews University (Andrews University) · doi:10.32597/dissertations/1784/
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Linden, I. (2024) · doi:10.26481/dis.20240301il
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NANCE, M. A., Phillips, O. W., & Tropea, T. F. (2024) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2024.107041
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Pires, S. B., Kunkel, D., Kipps, C., & Portillo, M. C. (2024) · Springer eBooks · doi:10.1007/978-3-031-25376-8_96-1
Henn, W. (2024) · Springer eBooks · doi:10.1007/978-3-662-69739-9_6
Mahmood, R., Hu, D., David, A., Beattie, Z., Kaye, J. A., Alshurafa, N. I., Haux, L. M., Hester, J. D., Kiselica, A. M., Liu, S., et al. (2025) · doi:10.2196/preprints.84618
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Pires, S. B., Kunkel, D., Kipps, C., & Portillo, M. C. (2025) · Springer eBooks · doi:10.1007/978-3-031-96286-8_96 · Cited by 1
Mahmood, R., David, A., Hu, D., Alshurafa, N. I., Haux, L. M., Hester, J. D., Kiselica, A. M., Liu, S., Qiu, C., Wu, C.-Y., et al. (2026) · JMIR Formative Research · doi:10.2196/84618
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van der Schaar, J., Visser, L. N. C., Asscher, E. C. A., Pijnenburg, Y. A. L., de Geus, C. M., van der Flier, W. M., Bredenoord, A. L., van den Hoven, M., Smets, E. M. A., & van der Lee, S. J. (2026) · Alzheimer s Research & Therapy · doi:10.1186/s13195-026-02000-z
Kana, S. L., & Leivant, M. (2026) · Springer eBooks · doi:10.1007/978-3-031-90919-1_6-1
Brien, R., Mead, S., Tibber, M. S., & Chan, E. (2026) · Alzheimer s & Dementia Behavior & Socioeconomics of Aging · doi:10.1002/bsa3.70083 · Cited by 1
Jung, O., Hoffmeister‐Ullerich, S., Omriouate, A., Plumhoff, J., Kreutz, M. R., Grochowska, K. M., & Morellini, F. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.07.17.738914
Metadata
- Authors
- Paulsen, J. S., Nance, M., Kim, J.-I., Carlozzi, N. E., Panegyres, P. K., Erwin, C., Goh, A., McCusker, E., & Williams, J. K.
- Affiliations
- University of Iowa (US)
- Park Nicollet Methodist Hospital (US)
- University of Michigan (US)
- The University of Texas Health Science Center at Houston (US)
- The Royal Melbourne Hospital (AU)
- The University of Sydney (AU)
- Corresponding author
- Paulsen, Jane S.
- ORCID
- Venue
- Progress in Neurobiology
- Publisher
- Elsevier BV
- Published
- 2013-11
- Volume
- 110
- Pages
- 2-28
- ISSN
- 0301-0082 (ISSN-L)
- PMC
- PMC3833259
- OpenAlex
- W1980542254
- Cited by
- 168
- References
- 290
- Citations by year
- 2026: 8 · 2025: 16 · 2024: 18 · 2023: 10 · 2022: 18 · 2021: 21 · 2020: 10 · 2019: 14 · 2018: 9 · 2017: 14 · 2016: 8 · 2015: 11 · 2014: 10
- FWCI
- 0.98
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Progress in Neurobiology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Iowa Research Online (The University of Iowa) (submittedVersion)
- Funders
- National Institutes of Health (UL1TR000442)
- U.S. Public Health Service (NGHG003330)
- National Human Genome Research Institute (R01HG003330)
- National Institute of Neurological Disorders and Stroke (R01NS040068, R01NS077946, NS040068, R01NS054893, NS054893, NS077946)
- National Center for Advancing Translational Sciences
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Social Sciences › Economics, Econometrics and Finance › Economics and Econometrics › Health Systems, Economic Evaluations, Quality of Life
- Keywords
- health-related quality of life, predictive genetic testing, early diagnosis, neurodegenerative diseases, patient-reported outcomes, Huntington's disease, Alzheimer's disease, Parkinson's disease, dementia with Lewy bodies, frontotemporal dementia, amyotrophic lateral sclerosis, prion disease, hereditary ataxia, dentatorubral-pallidoluysian atrophy, Wilson's disease, direct-to-consumer genetic testing, regret, genetic discrimination, stigmatization
- MeSH terms
- Brain, Genetic Testing, Humans, Quality of Life, Neurodegenerative Diseases, Early Diagnosis
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