Article
APOE is a potential modifier gene in an autosomal dominant form of frontotemporal dementia (IBMPFD).
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2007
Mehta Sarju G, Watts Giles D J, Adamson Jennifer L, Hutton Mike, Umberger Geanie, Xiong Shuling, Ramdeen Sheena, Lovell Mark A, Kimonis Virginia E, Smith Charles D
Abstract excerpt
PURPOSE: Inclusion-body myopathy, Paget's disease of bone and frontotemporal dementia is an adult-onset autosomal dominant illness (IBMPFD) caused by mutations in the valosin-containing protein (VCP) on chromosome 9p21.1-p12. The penetrance of the gene is 82% for myopathy, 49% for Paget's disease, but may be as low as 30% for frontotemporal dementia. Modifier genes could account for decreased frontotemporal...
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