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Reduced penetrance ...
Reduced penetrance of the PSEN1 H163Y autosomal dominant Alzheimer mutation : A 22-year follow-up study
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- Thordardottir, Steinunn (författare)
- Karolinska Institutet,Karolinska University Hospital
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- Rodriguez-Vieitez, Elena (författare)
- Karolinska Institutet
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- Almkvist, Ove (författare)
- Stockholm University,Karolinska Institutet,Stockholms universitet,Biologisk psykologi,Karolinska University Hospital Huddinge, Sweden; Karolinska Institutet, Sweden,Karolinska Univ Hosp Huddinge, Theme Aging, S-14186 Stockholm, Sweden;Karolinska Inst, Dept Neurobiol Care Sci & Soc, Ctr Alzheimer Res, Div Translat Alzheimer Neurobiol, S-14157 Huddinge, Sweden;Stockholm Univ, Dept Psychol, S-10691 Stockholm, Sweden
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- Ferreira, Daniel (författare)
- Karolinska Institutet
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- Saint-Aubert, Laure (författare)
- Karolinska Institutet,University of Toulouse
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- Kinhult-Ståhlbom, Anne (författare)
- Karolinska Institutet,Karolinska University Hospital
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- Thonberg, Håkan (författare)
- Karolinska Institutet,Karolinska University Hospital
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- Schöll, Michael (författare)
- Gothenburg University,Göteborgs universitet,University of Gothenburg,Lund University,Lunds universitet,Karolinska Institutet,Klinisk minnesforskning,Forskargrupper vid Lunds universitet,Clinical Memory Research,Lund University Research Groups,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
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- Westman, Eric (författare)
- Karolinska Institutet
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- Wall, Anders (författare)
- Uppsala University,Uppsala universitet,Radiologi
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- Eriksdotter, Maria (författare)
- Karolinska Institutet,Karolinska University Hospital
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- Zetterberg, Henrik (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
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- Blennow, Kaj (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
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- Nordberg, Agneta (författare)
- Karolinska Institutet,Karolinska University Hospital
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- Graff, Caroline (författare)
- Karolinska Institutet,Karolinska University Hospital
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(creator_code:org_t)
- 2018-05-10
- 2018
- Engelska.
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Ingår i: Alzheimer's Research & Therapy. - : Springer Science and Business Media LLC. - 1758-9193. ; 10
- Relaterad länk:
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https://doi.org/10.1...
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https://alzres.biome...
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https://uu.diva-port... (primary) (Raw object)
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http://dx.doi.org/10... (free)
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https://urn.kb.se/re...
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https://doi.org/10.1...
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https://urn.kb.se/re...
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http://kipublication...
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https://lup.lub.lu.s...
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https://gup.ub.gu.se...
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Abstract
Ämnesord
Stäng
- Background: The range of onset ages within some PSEN1 families is wide, and a few cases of reduced penetrance of PSEN1 mutations have been reported. However, published data on reduced penetrance have been limited to clinical histories, often collected retrospectively and lacking biomarker information. We present a case of reduced penetrance of the PSEN1 H163Y mutation in a carrier prospectively followed for 22 years. Methods: Two brothers (A and B), both carriers of the H163Y mutation, were followed between 1995 and 2017. They underwent repeated clinical evaluations, neuropsychological assessments, and cerebrospinal fluid analyses, as well as brain imaging examinations with structural magnetic resonance, [F-18] fluorodeoxyglucose positron emission tomography, and [C-11] Pittsburgh compound B positron emission tomography. Results: Brother A was followed between 44 and 64 years of age. Cognitive symptoms due to Alzheimer's disease set in at the age of 54. Gradual worsening of symptoms resulted in admittance to a nursing home owing to dependence on others for all activities of daily living. He showed a curvilinear decline in cognitive function on neuropsychological tests, and changes on magnetic resonance imaging, positron emission tomography, and biomarkers in the cerebrospinal fluid supported a clinical diagnosis of Alzheimer's disease. Brother A died at the age of 64 and fulfilled the criteria for definitive Alzheimer's disease according to neuropathological examination results. Brother B was followed between the ages of 43 and 65 and showed no cognitive deterioration on repeated neuropsychological test occasions. In addition, no biomarker evidence of Alzheimer's disease pathology was detected, either on imaging examinations or in cerebrospinal fluid. Conclusions: The average (SD) age of symptom onset for PSEN1 H163Y is 51 +/- 7 years according to previous studies. However, we present a case of a biomarker-verified reduction in penetrance in a mutation carrier who was still symptom-free at the age of 65. This suggests that other genetic, epigenetic, and/or environmental factors modify the onset age.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
- SAMHÄLLSVETENSKAP -- Psykologi (hsv//swe)
- SOCIAL SCIENCES -- Psychology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Geriatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Geriatrics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Psykiatri (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Psychiatry (hsv//eng)
Nyckelord
- Autosomal dominant Alzheimer's disease
- CSF
- [F-18]fluorodeoxyglucose PET
- [C-11]Pittsburgh compound B PET
- Reduced penetrance
- Psychology
- psykologi
- Autosomal dominant Alzheimer's disease
- CSF
- Reduced penetrance
- [C]Pittsburgh compound B PET
- [F]fluorodeoxyglucose PET
- [ C]Pittsburgh compound B PET 11
- [ F]fluorodeoxyglucose PET 18
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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Thordardottir, S ...
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Rodriguez-Vieite ...
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Almkvist, Ove
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Ferreira, Daniel
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Saint-Aubert, La ...
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Kinhult-Ståhlbom ...
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visa fler...
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Thonberg, Håkan
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Schöll, Michael
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Westman, Eric
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Wall, Anders
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Eriksdotter, Mar ...
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Zetterberg, Henr ...
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Blennow, Kaj
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Nordberg, Agneta
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Graff, Caroline
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och Neurovetenskaper
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Neurologi
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- SAMHÄLLSVETENSKAP
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SAMHÄLLSVETENSKA ...
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och Psykologi
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Geriatrik
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Psykiatri
- Artiklar i publikationen
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Alzheimer's Rese ...
- Av lärosätet
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Stockholms universitet
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Uppsala universitet
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Karolinska Institutet
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Lunds universitet
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Göteborgs universitet