| 1. |
- Almkvist, Ove, et al.
(författare)
-
Predicting Cognitive Decline across Four Decades in Mutation Carriers and Non-carriers in Autosomal-Dominant Alzheimer's Disease
- 2017
-
Ingår i: Journal of the International Neuropsychological Society. - : CAMBRIDGE UNIV PRESS. - 1355-6177 .- 1469-7661. ; 23:3, s. 195-203
-
Tidskriftsartikel (refereegranskat)abstract
- Objectives: The aim of this study was to investigate cognitive performance including preclinical and clinical disease course in carriers and non-carriers of autosomal-dominant Alzheimer's disease (adAD) in relation to multiple predictors, that is, linear and non-linear estimates of years to expected clinical onset of disease, years of education and age. Methods: Participants from five families with early-onset autosomal-dominant mutations (Swedish and Arctic APP, PSEN1 M146V, H163Y, and I143T) included 35 carriers (28 without dementia and 7 with) and 44 non-carriers. All participants underwent a comprehensive clinical evaluation, including neuropsychological assessment at the Memory Clinic, Karolinska University Hospital at Huddinge, Stockholm, Sweden. The time span of disease course covered four decades of the preclinical and clinical stages of dementia. Neuropsychological tests were used to assess premorbid and current global cognition, verbal and visuospatial functions, short-term and episodic memory, attention, and executive function. Results: In carriers, the time-related curvilinear trajectory of cognitive function across disease stages was best fitted to a formulae with three predictors: years to expected clinical onset (linear and curvilinear components), and years of education. In non-carriers, the change was minimal and best predicted by two predictors: education and age. The trajectories for carriers and non-carriers began to diverge approximately 10 years before the expected clinical onset in episodic memory, executive function, and visuospatial function. Conclusions: The curvilinear trajectory of cognitive functions across disease stages was mimicked by three predictors in carriers. In episodic memory, executive and visuospatial functions, the point of diverging trajectories occurred approximately 10 years ahead of the clinical onset compared to non-carriers.
|
|
| 2. |
|
|
| 3. |
- Mykkanen, Kati, et al.
(författare)
-
Different Clinical Phenotypes in Monozygotic CADASIL Twins With a Novel NOTCH3 Mutation
- 2009
-
Ingår i: Stroke. - 0039-2499 .- 1524-4628. ; 40:6, s. 2215-2218
-
Tidskriftsartikel (refereegranskat)abstract
- Background and Purpose-CADASIL is a hereditary arteriopathy causing recurrent strokes and cognitive decline. Because monozygotic twins have identical genetic background, differences in their environment and lifestyle could reveal factors that may influence CADASIL patients' clinical course, which is highly variable even within the same family. Methods-We describe differences in clinical and imaging findings in a pair of monozygotic CADASIL twins. Results-Twin B experienced his first-ever stroke 14 years earlier than twin A, and his symptoms, signs, and imaging findings were more severe. Distinguishing factors were twin B's smoking as well as twin A's physical activity and earlier statin treatment. Causative NOTCH3 mutation was a novel c.752G>A -substitution (p.Cys251Tyr). Conclusions-The phenotypic differences in these monozygotic twins suggest influence of environmental and lifestyle factors on the clinical course of CADASIL. (Stroke. 2009; 40: 2215-2218.)
|
|
| 4. |
|
|
| 5. |
- Nygård, Louise, et al.
(författare)
-
The Relationship Between Cognition and Daily Activities in Cases of Mild Alzheimer's Disease
- 1998
-
Ingår i: Scandinavian Journal of Occupational Therapy. - : Informa UK Limited. - 1103-8128 .- 1651-2014. ; 5:4, s. 160-166
-
Tidskriftsartikel (refereegranskat)abstract
- The purpose of this study was to investigate the relationship between cognitive functions, assessed by neuropsychological tests, and instrumental activities of daily living (IADL) ability, assessed by the Assessment of Motor and Process Skills (AMPS) in persons with mild Alzheimer's disease. Fifty-two participants were included in the study. We found significant relationships between the AMPS IADL process ability and Factors 1 (perceptual speed, visuoconstructive ability) and 4 (secondary memory). The AMPS IADL motor ability showed a significant relationship to Factors 1 and 3 (logical memory). The cognitive factors explained 24 26% of the variability in AMPS IADL ability. The results indicate that cognitive functions had a significant impact on IADL ability in this population. However, as 74–76% of the variability in the IADL ability was left unaccounted for by the cognitive functions, it is important to assess both cognitive functions and IADL ability when investigating persons with mild dementia. Further study of the complex interaction between a variety of influencing factors is needed to better understand the consequences of dementia on everyday life functioning.
|
|
