FAMILIAL PAGET'S DISEASE WITH EARLY ONSET

Early-onset familial Alzheimer's disease (EOFAD).

Early-onset familial Alzheimer's disease (EOFAD) is a condition characterized by early onset dementia (age at onset < 65 years) and a positive family history for dementia. To date, 230 mutations in presenilin (PS1, PS2) and amyloid precursor protein (APP) genes have been identified in EOFAD. The mutations within these three genes (PS1/PS2/APP) affect a common pathogenic pathway in APP synthesis...

GATA2 Is Associated with Familial Early-Onset Coronary Artery Disease

The transcription factor GATA2 plays an essential role in the establishment and maintenance of adult hematopoiesis. It is expressed in hematopoietic stem cells, as well as the cells that make up the aortic vasculature, namely aortic endothelial cells and smooth muscle cells. We have shown that GATA2 expression is predictive of location within the thoracic aorta; location is suggested to be a su...

Familial Paget's disease's with early onset.

now accepted that Paget’s disease may run in families, though uncommonly. The family with Paget’s disease reported here consists of a father and two daughters. The father’s case is of interest because of the rare type of malignant change which led to his death, and the affection in the two daughters is notable for the unusually early onset at eighteen years. There are three other siblings, two ...

Familial aggregation of Parkinson disease: a comparative study of early-onset and late-onset disease.

CONTEXT It is unclear whether late-onset Parkinson disease (PD), which is the most typical and most common form of the disease, has a familial component. Evidence for familial aggregation is key to whether research should focus on gene discovery or search for environmental factors. OBJECTIVE To investigate familial aggregation of early-onset and late-onset PD separately. METHODS Using survi...

Pagets Disease Of The Nipple