Characterizing familial corticobasal syndrome due to Alzheimer's disease pathology and PSEN1 mutations.
Alzheimers Dement
; 13(5): 520-530, 2017 May.
Article
em En
| MEDLINE
| ID: mdl-27743520
ABSTRACT
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 AD and corticobasal degeneration, as well as genetically proven PSEN1 cases with an amnestic presentation.RESULTS:
One family harbored a novel mutation in PSEN1p.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 mutationp.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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Córtex Cerebral
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Presenilina-1
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Doença de Alzheimer
Limite:
Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Alzheimers Dement
Ano de publicação:
2017
Tipo de documento:
Article