Alzheimer disease and associated disorders, 2004-10, Vol.18 (4), p.256-258
2004
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Details
- Autor(en) / Beteiligte
- Titel
- Novel PS1 mutation in a Bavarian kindred with familial Alzheimer disease
- Ist Teil von
- Alzheimer disease and associated disorders, 2004-10, Vol.18 (4), p.256-258
- Ort / Verlag
- Hagerstown, MD: Lippincott Williams & Wilkins
- Erscheinungsjahr
- 2004
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- We describe a novel Leu174Arg PS1 mutation in two members of a Bavarian family which were initially diagnosed with frontotemporal dementia. Intriguingly, there is the possibility that there is an 18th century founder effect and that this family is related to original kindreds with familial Alzheimer disease described in the early 20th century.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0893-0341eISSN: 1546-4156Titel-ID: cdi_proquest_miscellaneous_67162777
- Format
- –
- Schlagworte
- Alzheimer Disease - diagnostic imaging, Alzheimer Disease - genetics, Arginine, Base Sequence, Biological and medical sciences, Brain - diagnostic imaging, Cardiovascular system, Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases, Errors of metabolism, Female, Germany, Guanine, Heterozygote, Humans, Investigative techniques, diagnostic techniques (general aspects), Leucine, Lipids (lysosomal enzyme disorders, storage diseases), Male, Medical sciences, Membrane Proteins - genetics, Metabolic diseases, Middle Aged, Molecular Sequence Data, Mutation, Neurology, Pedigree, Presenilin-1, Radiodiagnosis. Nmr imagery. Nmr spectrometry, Thymine, Tomography, Emission-Computed, Single-Photon