Neuropsychological functions in variant Alzheimer's disease with spastic paraparesis
2004 (English)In: Journal of the Neurological Sciences, ISSN 0022-510X, Vol. 218, no 1-2, 29-37 p.Article in journal (Refereed) Published
Few data exist on the effects of specific Alzheimer's disease (AD)-related mutations on cognitive function. We present neuropsychological test results in eight members of a large kindred with variant Alzheimer's disease (VarAD) due to a deletion of the presenilin 1 (PS-1) gene, encompassing exon 9. The disease was neuropathologically characterized by the presence of large, unusual, "cotton wool" plaques (CWP). Four surviving patients were prospectively tested, and retrospective neuropsychological data were collected from additional four deceased patients. The neuropsychological evaluation was based on tests of verbal and visual memory, abstract thinking, and visuoconstructive and spatial functions. In addition, psychiatric symptoms were evaluated. In four patients, brain glucose metabolism was examined by positron emission tomography (PET). PET showed temporoparietal hypometabolism typical of AD. In addition, variable patterns of hypometabolism (hemispherical asymmetry and occipital accentuation) were related to individual deficits of cognitive performance. However, all these early-onset patients (age range 43-63 years) with a deletion mutation of PS-1 gene showed prominent memory impairment and deficits in visuoconstructive and intellectual functions.
Place, publisher, year, edition, pages
2004. Vol. 218, no 1-2, 29-37 p.
Alzheimer Disease/genetics/*physiopathology, Brain Mapping, Case-Control Studies, Cerebral Cortex/anatomy & histology/radionuclide imaging, Comparative Study, Female, Follow-Up Studies, Humans, Learning/physiology, Male, Middle Aged, Neuropsychological Tests/*statistics & numerical data, Orientation/physiology, Paraparesis; Spastic/*physiopathology, Psychomotor Performance/physiology, Research Support; Non-U.S. Gov't, Tomography; Emission-Computed/methods, Variation (Genetics), Visual Perception/physiology
Medical and Health Sciences
IdentifiersURN: urn:nbn:se:uu:diva-73786DOI: 10.1016/j.jns.2003.10.020PubMedID: 14759630OAI: oai:DiVA.org:uu-73786DiVA: diva2:101696