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Lack of APOE Christchurch variant in five age of onset outliers with PSEN1, PSEN2 Alzheimer's disease and MAPT frontotemporal dementia
- Source :
- J Neurol Sci
- Publication Year :
- 2020
- Publisher :
- Elsevier BV, 2020.
-
Abstract
- Introduction: Age of onset modifiers are of considerable importance in Alzheimer's and related dementias. Arboleda-Valesquez et al., reporting on a single PSEN1 subject, suggested that homozygosity for the Christchurch variant of APOE could represent such a modifier. Methods: We studied APOE Christchurch and Kloth-VS genotypes of five dementia age of onset outliers who carried their families' pathogenic variant, but were asymptomatic at ages beyond the families' average age of onset. Results: Four age of onset outliers with PSEN1/2 and MAPT mutations did not carry the Christchurch variant and a fifth individual was also determined to not be homozygous for this variant. Among them, only one subject (APOE e3/e3) carries the Klotho-VS heterozygous genotype. Discussion: From a small but informative sample of five age of onset outliers we show that neither the APOE Christchurch nor the Klotho-VS variant is a common age of onset modifier for three genetic forms of dementia. Larger studies of this association and further research is required to identify additional genetic modifiers.
- Subjects :
- Apolipoprotein E
Pediatrics
medicine.medical_specialty
tau Proteins
Asymptomatic
Article
03 medical and health sciences
Apolipoproteins E
0302 clinical medicine
Alzheimer Disease
Presenilin-2
PSEN2
Genotype
Presenilin-1
PSEN1
Humans
Medicine
Dementia
030212 general & internal medicine
Age of Onset
business.industry
medicine.disease
Neurology
Frontotemporal Dementia
Mutation
Neurology (clinical)
Age of onset
medicine.symptom
business
030217 neurology & neurosurgery
Frontotemporal dementia
Subjects
Details
- ISSN :
- 0022510X
- Volume :
- 418
- Database :
- OpenAIRE
- Journal :
- Journal of the Neurological Sciences
- Accession number :
- edsair.doi.dedup.....74a86d0cf832a5296a9faf0b299629b6