Format

Send to

Choose Destination

See 1 citation found by citation matching your search:

Alzheimers Dement. 2017 May;13(5):520-530. doi: 10.1016/j.jalz.2016.08.014. Epub 2016 Oct 12.

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

Author information

1
L.C. Campbell Cognitive Neurology Research Unit, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, Ontario, Canada; Brain Sciences Research Program, Sunnybrook Research Institute, University of Toronto, Toronto, Ontario, Canada; Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada. Electronic address: benjamin.lam@sunnybrook.ca.
2
Ziauddin University, Karachi, Pakistan.
3
Department of Anatomical Pathology, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, Ontario, Canada.
4
Tanz Centre for Research in Neurodegenerative Disease, Toronto, Ontario, Canada.
5
Tanz Centre for Research in Neurodegenerative Disease, Toronto, Ontario, Canada; Cambridge Institute for Medical Research, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
6
Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada; Sam and Ida Ross Memory Clinic, Baycrest, Toronto, Ontario, Canada; Rotman Research Institute, Baycrest, University of Toronto, Toronto, Ontario, Canada; Toronto Dementia Research Alliance, Toronto, Ontario, Canada.
7
Brain Sciences Research Program, Sunnybrook Research Institute, University of Toronto, Toronto, Ontario, Canada; Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada; Rotman Research Institute, Baycrest, University of Toronto, Toronto, Ontario, Canada; Department of Psychology, University of Toronto, Toronto, Ontario, Canada; Ontario Brain Institute, Toronto, Ontario, Canada.
8
Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada; Sam and Ida Ross Memory Clinic, Baycrest, Toronto, Ontario, Canada; Rotman Research Institute, Baycrest, University of Toronto, Toronto, Ontario, Canada.
9
L.C. Campbell Cognitive Neurology Research Unit, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, Ontario, Canada; Brain Sciences Research Program, Sunnybrook Research Institute, University of Toronto, Toronto, Ontario, Canada; Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada; Rotman Research Institute, Baycrest, University of Toronto, Toronto, Ontario, Canada; Toronto Dementia Research Alliance, Toronto, Ontario, Canada.
10
L.C. Campbell Cognitive Neurology Research Unit, Sunnybrook Health Sciences Centre, University of Toronto, Toronto, Ontario, Canada; Brain Sciences Research Program, Sunnybrook Research Institute, University of Toronto, Toronto, Ontario, Canada; Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada; Toronto Dementia Research Alliance, Toronto, Ontario, Canada.

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 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.

KEYWORDS:

Alzheimer's disease; Corticobasal degeneration; Presenilin-1; SPECT; Volumetric MRI

PMID:
27743520
DOI:
10.1016/j.jalz.2016.08.014
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center