Corticobasal Syndrome in a Family with Early-Onset Alzheimer's Disease Linked to a Presenilin-1 Gene Mutation

Overview

Journal Mov Disord Clin Pract

Publisher Wiley

Specialty Neurology

Date 2019 Mar 7

PMID 30838239

Citations 6

Authors

Eloisa Navarro

Clara de Andres

Carmen Guerrero

Santiago Gimenez-Roldan

Affiliations

Soon will be listed here.

Abstract

Background: Alzheimer's disease (AD) is the second-most frequent cause underlying corticobasal syndrome (CBS). However, a reliable diagnosis using clinical, neuropsychological, or neuroimaging approaches has not yet been achieved.

Methods: Clinical, neuropsychological, imaging, and neuropathology studies were undertaken in a large Spanish family with early-onset familial AD (EOFAD) carrying a Met233Leu mutation linked to presenilin-1 gene (PSEN-1).

Results: Two of three examined members of this family presented with the usual amnestic pattern. At the age of 47 years, a third family member, in whom pathology was later confirmed, developed prominent CBS combined with severe neuropsychiatric and behavioral disturbances resembling those often found in EOFAD.

Conclusion: Although CBS in EOFAD appears to be rare, demonstration of a linkage to PSEN-1 gene mutations may permit in vivo diagnosis.

Citing Articles

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