Volume 107, Issue s179 pp. 77-82

Clinical findings in nondemented mutation carriers predisposed to Alzheimer's disease: a model of mild cognitive impairment

Ove Almkvist

Ove Almkvist

Divisions of Clinical Geriatrics and

Department of Psychology, Stockholm University, Stockholm, Sweden;

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Karin Axelman

Karin Axelman

Experimental Geriatrics, Department of Neurotec, Karolinska Institutet, Huddinge University Hospital;

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Hans Basun

Hans Basun

Divisions of Clinical Geriatrics and

AstraZeneca, Clinical Science, Södertälje, Sweden;

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Malene Jensen

Malene Jensen

Experimental Geriatrics, Department of Neurotec, Karolinska Institutet, Huddinge University Hospital;

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Matti Viitanen

Matti Viitanen

Divisions of Clinical Geriatrics and

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Lars-Olof Wahlund

Lars-Olof Wahlund

Divisions of Clinical Geriatrics and

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Lars Lannfelt

Lars Lannfelt

Department of Public Health and Geriatrics, Uppsala University Hospital, Uppsala, Sweden

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First published: 21 February 2003
Citations: 21
Ove Almkvist, Division of Clinical Geriatrics B84, Huddinge University Hospital, S-14186 Stockholm, Sweden
Tel.: +46 85858 5481
Fax: +46 85858 5470
e-mail: [email protected]

Abstract

Individuals carrying a mutation associated with Alzheimer's disease (AD) may serve as a model of mild cognitive impairment (MCI). Nondemented individuals from these families can be subdivided into asymptomatic and symptomatic groups. Four families were studied. Two families are associated with APP mutations (KN670/671ML, E693G) and two with PS1 mutation (M146V, H163Y). Clinical symptoms, level of global cognitive functioning as evaluated by Mini-Mental State Examination, neuropsychological test results, neuroradiological examinations (magnetic resonance imaging (MRI) and single-photon emission tomography (SPECT)), as well as cerebrospinal fluid (CSF) measurements of tau and β-amyloid are reported. Nondemented mutation carriers did not report any symptoms indicating cognitive decline. In addition, no clinical signs of dementia or marked cognitive impairment in neuropsychological tests were found. A reduction of temporal blood flow with SPECT was indicated in 5/13 nondemented mutation carriers. Two of these 13 individuals had moderate hyperintensities in deep white matter as observed on MRI. CSF measurements of Aβ42/43 were inconclusive because of large biological variation. A nonsignificant elevation of tau was detected in mutation carriers. In conclusion, clinical examinations of relatively young individuals carrying an AD mutation did not reveal any marked abnormalities before the clinical onset of dementia.

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