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New Genes, New Dilemmas: FTLD Genetics and Its Implications for Families

Sergievsky Center and Taub Institute, Columbia University, New York, jg2673{at}columbia.edu

Jennifer Adamson, CCRP

Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida

Anna Karydas

Memory and Aging Center, University of California, San Francisco, California

Bruce L. Miller, MD

Memory and Aging Center, University of California, San Francisco, California

Mike Hutton, PhD

Sergievsky Center and Taub Institute, Columbia University, New York

After Alzheimer's disease, frontotemporal lobar degeneration (FTLD) is the second leading cause of dementia in persons less than 65 years of age. Up to 40% of FTLD cases have a positive family history. Research on these families has led to the discovery of four disease-causing genes: microtubule-associated protein tau (MAPT), progranulin (PGRN), valosin-containing protein (VCP), and charged multivesicular body protein 2B (CHMP2B). MAPT and PGRN are responsible for the largest number of familial cases. Each of these genes differs by disease mechanism. Moreover mutations in both genes are associated with significant interfamilial and intrafamilial phenotypic variation. Genetic counseling needs to address the differences between the PGRN and MAPT mutations as well as the variation in clinical symptoms. The aims of this article are to describe the genetics of the FTLD spectrum and aid in the genetic counseling of individuals who may carry genetic mutations.

Key Words: genetics • frontotemporal lobar degeneration • progranulin • tau • genetic counseling

American Journal of Alzheimer's Disease and Other Dementias®, Vol. 22, No. 6, 507-515 (2008)
DOI: 10.1177/1533317507306662


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