Article
Complexities of Genetic Counseling for ALS: A Case of Two Siblings with Discordant Genetic Test Results.
Journal of genetic counseling - 1 Aug 2015
Mandich Paola, Mantero Vittorio, Verdiani Simonetta, Gotta Fabio, Caponnetto Claudia, Bellone Emilia, Ferrandes Giovanna, Origone Paola
Abstract excerpt
Rapid advances in the genetics of amyotrophic lateral sclerosis (ALS) have dramatically changed the approach of clinicians and researchers to the motor neuron diseases. We report two siblings in whom the genetic study provided conflicting results, hence raising a number of issues which deserve to be considered by clinicians involved in genetic testing for ALS. The first patient died within 2 years of ALS onset,...
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