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Corticobasal Syndrome in a Family with Early‐Onset Alzheimer's Disease Linked to a Presenilin‐1 Gene Mutation
Author(s) -
Navarro Eloisa,
De Andrés Clara,
Guerrero Carmen,
GiménezRoldán Santiago
Publication year - 2015
Publication title -
movement disorders clinical practice
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.754
H-Index - 18
ISSN - 2330-1619
DOI - 10.1002/mdc3.12212
Subject(s) - neuropathology , presenilin , family history , disease , dementia , neuroimaging , neuropsychology , early onset alzheimer's disease , medicine , alzheimer's disease , psychology , neuroscience , genetics , pathology , biology , cognition
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.