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Article

Characterizing familial corticobasal syndrome due to Alzheimer's disease pathology and PSEN1 mutations.

Alzheimer's & dementia : the journal of the Alzheimer's Association - 1 May 2017

Lam Benjamin, Khan Aun, Keith Julia, Rogaeva Ekaterina, Bilbao Juan, St George-Hyslop Peter, Ghani Mahdi, Freedman Morris, Stuss Donald T, Chow Tiffany, Black Sandra E, Masellis Mario

Abstract excerpt

INTRODUCTION: Corticobasal syndrome (CBS) resulting from genetic Alzheimer's disease (AD) has been described only once. Whether familial CBS-AD is a distinct clinical entity with its own imaging signature remains unknown. METHODS: Four individuals with CBS from two families underwent detailed assessment. For two individuals, regional atrophy and hypoperfusion were compared to autopsy-confirmed typical late-onset...

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Source

Identifiers

PMID: 27743520
DOI: 10.1016/j.jalz.2016.08.014

Genes

CBS
PSEN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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