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A Rare PSEN1 (Leu85Pro) Mutation Causing Alzheimer's Disease in a 29-Year-Old Woman Presenting as Corticobasal Syndrome.
- Source :
-
Journal of Alzheimer's disease : JAD [J Alzheimers Dis] 2019; Vol. 70 (3), pp. 655-658. - Publication Year :
- 2019
-
Abstract
- Dementia is not just a disease of old age. Early-onset dementia affects people younger than 65 and its differential diagnosis is broader than in older people. Nevertheless, although young people are considerably more liable to develop a rare form of dementia, Alzheimer's disease (AD) remains the most common diagnosis. The aim of this article is to report on an early-onset AD patient associated with the rare pathogenic variant PSEN1 (Leu85Pro) presenting as a possible corticobasal syndrome with asymmetric limb apraxia, parkinsonian signs, and myoclonus.
- Subjects :
- Adult
Amyloid beta-Peptides metabolism
Diagnosis, Differential
Disease Progression
Female
Humans
Magnetic Resonance Imaging methods
Mental Status and Dementia Tests
Mutation
Neurologic Examination methods
Neuropsychological Tests
Positron Emission Tomography Computed Tomography methods
Alzheimer Disease diagnosis
Alzheimer Disease genetics
Alzheimer Disease psychology
Brain diagnostic imaging
Brain metabolism
Brain pathology
Mental Competency
Myoclonus diagnosis
Myoclonus etiology
Presenilin-1 genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1875-8908
- Volume :
- 70
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Journal of Alzheimer's disease : JAD
- Publication Type :
- Academic Journal
- Accession number :
- 31282415
- Full Text :
- https://doi.org/10.3233/JAD-190107