Abstract

Spanish-language screening tests that are sensitive to the early cognitive changes of Alzheimer's disease (AD) are needed. Persons known to be at 50% risk for young-onset AD due to presenilin-1 (PSEN1) mutations provide the opportunity to assess which measures on the Mini-mental State Examination (MMSE) are most sensitive to these early changes. We performed genetic and Spanish-language cognitive testing on 50 Mexican persons without dementia at risk for inheriting PSEN1 mutations. We then compared the performance on sub-items of the MMSE between PSEN1 mutation carriers (MCs) and non-carriers (NCs) using t-tests and Fisher's exact tests. Exploratory multiple logistic regression analyses were also performed. Twenty-nine persons were MCs and 21 NCs. NCs tended to achieve higher levels of education (p = 0.039) than did MCs. MCs tended to perform more poorly when spelling "MUNDO" backwards and on Orientation, particularly regarding the date. In multiple regression analyses the ability of backwards spelling to predict PSEN1 mutation status was reduced when education was included as an independent variable. Subjects in the earliest stage of PSEN1-related AD showed deficits on orientation to date and in divided attention when spelling backwards. It is unclear if educational level should be considered an associated feature or a con-founding variable in this population although it should be taken into account when considering performance on the MMSE task of divided attention. The relative lack of deficits on delayed recall of three words probably represents the insensitivity of this measure in early AD. This study supports the utility of autosomal dominant AD as a model of the more common sporadic form of the disorder.

Highlights

  • Because of the incipient onset and gradually progressive nature of Alzheimer’s disease (AD), it can be difficult to diagnose definitively in its earliest stages

  • Subjects in the earliest stage of PSEN1-related AD showed deficits on orientation to date and in divided attention when spelling backwards. It is unclear if educational level should be considered an associated feature or a confounding variable in this population it should be taken into account when considering performance on the Mini-mental State Examination (MMSE) task of divided attention

  • This study supports the utility of autosomal dominant AD as a model of the more common sporadic form of the disorder

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Summary

Introduction

Because of the incipient onset and gradually progressive nature of Alzheimer’s disease (AD), it can be difficult to diagnose definitively in its earliest stages. Quick screening tests are needed, in primary care settings, that help to differentiate persons in the earliest stage of the disorder from others whose cognitive complaints are due to other causes. Accounting for only 2–5% of cases of AD, familial AD, which is inherited as an autosomal dominant trait, provides a unique opportunity to study the earliest cognitive manifestations of the disorder. Spanish-language screening tests that are sensitive to the early cognitive changes of Alzheimer’s disease (AD) are needed. Persons known to be at 50% risk for young-onset AD due to presenilin-1 (PSEN1) mutations provide the opportunity to assess which measures on the Mini-mental State Examination (MMSE) are most sensitive to these early changes

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