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Twenty Years of a Pre-Symptomatic Testing Protocol for Late-Onset Neurological ...

Paneque, Milena; Félix, Joana; Mendes, Álvaro; Lemos, Carolina; Lêdo, Susana; Silva, João; Sequeiros, Jorge

Introduction: The national protocol of genetic counselling and pre-symptomatic testing for late-onset neurological diseases began in Portugal in 1995. Initially, it was accessible only to adults at-risk for Machado-Joseph disease, but was later extended to other hereditary ataxias, to Huntington’s disease and to familial amyloid polyneuropathy caused by Val30Met mutation at the transthyretin gene. The aim of th...

Date: 2019   |   Origin: Acta Médica Portuguesa
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