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Verfasst von:Hausner, Lucrezia [VerfasserIn]   i
 Tschäpe, Jakob-Andreas [VerfasserIn]   i
 Schmitt, Hans Peter [VerfasserIn]   i
 Hentschel, Frank [VerfasserIn]   i
 Hartmann, Tobias [VerfasserIn]   i
 Frölich, Lutz [VerfasserIn]   i
Titel:Clinical characterization of a presenilin 1 mutation (F177S) in a family with very early-onset Alzheimer's disease in the third decade of life
Verf.angabe:Lucrezia Hausner, Jakob A. Tschäpe, Hans Peter Schmitt, Frank Hentschel, Tobias Hartmann, Lutz Frölich
Jahr:2014
Jahr des Originals:2013
Umfang:13 S.
Fussnoten:First published: 15 July 2013 ; Gesehen am 23.11.2020
Titel Quelle:Enthalten in: Alzheimer's and dementia
Ort Quelle:Hoboken, NJ : Wiley, 2005
Jahr Quelle:2014
Band/Heft Quelle:10(2014), 2, Seite e27-39
ISSN Quelle:1552-5279
Abstract:BACKGROUND: Early-onset familial Alzheimer disease (AD) is an autosomal dominant disorder caused by mutations in the amyloid precursor protein, presenilin 1 (PSEN1), or presenilin 2 gene. The objective of this study was to characterize the phenotype in a large family with a PSEN1 F177S mutation by performing detailed clinical assessments, neuroimaging, and neuropathological analysis. - METHODS: In two subjects, clinical and neuropsychological assessments, structural magnetic resonance imaging, F-18-2-fluoro-2-deoxy-D-glucose positron emission tomographic imaging, AD biomarkers in cerebrospinal fluid and genetic analysis were available. In three deceased affected subjects, medical records were reviewed. In one subject, a complete neuropathological examination was available. - RESULTS: Cognitive impairment and neurological symptoms developed homogeneously around 30 years of age and worsened rapidly. All subjects died about 7 years (range, 6-8 years) after disease onset before 40 years of age. All technical diagnostic information (neuroimaging, cerebrospinal fluid) were typically for AD. Neuropathology showed abundant neuritic plaques and neurofibrillary tangles, typical of severe AD. Antidementia treatment in one subject did not alter the length of survival. - CONCLUSIONS: The PSEN1 F177S mutation leads to typical AD starting at age 30 and a homogeneous phenotype with rapid cognitive decline and prominent neurological symptoms. Excessive amyloid beta 42 production in the brain cortex corresponds well with other PSEN1 mutations.
DOI:doi:10.1016/j.jalz.2013.02.006
URL:Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.

Volltext: https://doi.org/10.1016/j.jalz.2013.02.006
 DOI: https://doi.org/10.1016/j.jalz.2013.02.006
Datenträger:Online-Ressource
Sprache:eng
Sach-SW:Adult
 Age of Onset
 Aged
 Alzheimer Disease
 Amyloid beta-Peptides
 Brain
 Brain Waves
 Cognition Disorders
 Early-onset Alzheimer's disease
 Electroencephalography
 Family Health
 Female
 Genetic Predisposition to Disease
 Genetics
 Humans
 Male
 Mental Status Schedule
 Middle Aged
 Mutation
 Neuropathology
 Peptide Fragments
 Phenotype
 Phenylalanine
 Positron-Emission Tomography
 Presenilin-1
 PSEN1
 Radiography
 Serine
K10plus-PPN:1740423917
Verknüpfungen:→ Zeitschrift

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