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Abstract
Objective: To derive an algorithm for genetic testing of patients with frontotemporal lobar degeneration (FTLD).
Methods: A literature search was performed to review the clinical and pathologic phenotypes and family history associated with each FTLD gene.
Results: Based on the literature review, an algorithm was developed to allow clinicians to use the clinical and neuroimaging phenotypes of the patient and the family history and autopsy information to decide whether or not genetic testing is warranted, and if so, the order for appropriate tests.
Conclusions: Recent findings in genetics, pathology, and imaging allow clinicians to use the clinical presentation of the patient with FTLD to inform genetic testing decisions.
Footnotes
-
- AD
- Alzheimer disease
- ALS
- amyotrophic lateral sclerosis
- bvFTD
- behavioral variant frontotemporal dementia
- CBD
- corticobasal degeneration
- CBS
- corticobasal syndrome
- CJD
- Creutzfeldt-Jakob disease
- DLB
- dementia with Lewy bodies
- FTD
- frontotemporal dementia
- FTLD
- frontotemporal lobar degeneration
- FUS
- fused in sarcoma protein
- NCI
- neuronal cytoplasmic inclusion
- NII
- neuronal intranuclear inclusion
- PD
- Parkinson disease
- PNFA
- progressive nonfluent aphasia
- PSP
- progressive supranuclear palsy
- PSPS
- progressive supranuclear palsy syndrome
- SemD
- semantic dementia
- TDP-43
- TAR-DNA binding protein.
- Received June 23, 2010.
- Accepted September 20, 2010.
- Copyright © 2011 by AAN Enterprises, Inc.
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