Abstract

Abstract
Transthyretin Familial Amyloid Polyneuropathy (TTR-FAP) is a neurological genetic disease that propagates from one family generation to the next. The disease can have severe effects on the life of patients after the first symptoms (onset) appear. Accurate prediction of the age of onset for these patients can help the management of the impact. This is, however, a challenging problem since both familial and non-familial characteristics may or may not affect the age of onset. In this work, we assess the importance of sets of genealogical features used for Predicting the Age of Onset of TTR-FAP Patients. We study three sets of features engineered from clinical and genealogical data records obtained from Portuguese patients. These feature sets, referred to as Patient, First Level and Extended Level Features, represent sets of characteristics related to each patient’s attributes and their familial relations. They were compiled by a Medical Research Center working with TTR-FAP patients. Our results show the importance of genealogical data when clinical records have no information related with the ancestor of the patient, namely its Gender and Age of Onset. This is suggested by the improvement of the estimated predictive error results after combining First and Extended Level with the Patients Features. © Springer Nature Switzerland AG 2019.

Abstract

Abstract

Abstract

Abstract