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Clinical findings in nondemented mutation carriers predisposed to Alzheimer's disease: a model of mild cognitive impairment
Author(s) -
Almkvist Ove,
Axelman Karin,
Basun Hans,
Jensen Malene,
Viitanen Matti,
Wahlund LarsOlof,
Lannfelt Lars
Publication year - 2003
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1034/j.1600-0404.107.s179.11.x
Subject(s) - dementia , hyperintensity , neuropsychology , asymptomatic , psychology , magnetic resonance imaging , alzheimer's disease , asymptomatic carrier , medicine , pathology , white matter , disease , cognition , psychiatry , radiology
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 ( KN 670/671 ML , E 693 G ) and two with PS1 mutation ( M 146 V , H 163 Y ). 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 Aβ 42/43 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.