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Characterizing familial corticobasal syndrome due to Alzheimer's disease pathology and PSEN1 mutations
Author(s) -
Lam Benjamin,
Khan Aun,
Keith Julia,
Rogaeva Ekaterina,
Bilbao Juan,
St. GeorgeHyslop Peter,
Ghani Mahdi,
Freedman Morris,
Stuss Donald T.,
Chow Tiffany,
Black Sandra E.,
Masellis Mario
Publication year - 2017
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2016.08.014
Subject(s) - psen1 , corticobasal degeneration , pathology , atrophy , autopsy , neuroscience , alzheimer's disease , presenilin , medicine , disease , progressive supranuclear palsy , psychology
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 AD and corticobasal degeneration, as well as genetically proven PSEN1 cases with an amnestic presentation. Results One family harbored a novel mutation in PSEN1 :p.Phe283Leu. MRI demonstrated severe parietal, perirolandic, and temporal atrophy, with relative sparing of frontal and ipsilateral hippocampal regions. Autopsy confirmed pure AD pathology. The other family harbored a known PSEN1 mutation:p.Gly378Val. Discussion This report confirms familial CBS‐AD as a distinct clinical entity, with a parietal‐perirolandic‐temporal atrophy signature. It illustrates the clinical heterogeneity that can occur despite a shared genetic cause and underscores the need for biomarkers such as amyloid imaging during life.