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Article

Presymptomatic testing for neurogenetic diseases in Brazil: assessing who seeks and who follows through with testing.

Journal of genetic counseling - 1 Feb 2012

Rodrigues Caroline Santa Maria, de Oliveira Viviane Ziebell, Camargo Gabriela, Osório Claudio Maria da Silva, de Castilhos Raphael Machado, Saraiva-Pereira Maria Luiza, Schuler-Faccini Lavínia, Jardim Laura Bannach

Abstract excerpt

Diagnostic tests are available to detect several mutations related to adult-onset, autosomal dominant, neurodegenerative diseases. We aimed to describe our experience in a presymptomatic testing program run by the Brazilian Public Health System from 1999 to 2009. A total of 184 individuals were eligible for presymptomatic testing due to a risk for spinocerebellar ataxia (SCA) - SCA3 (80%), Huntington's disease...

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Identifiers

PMID: 21717286
DOI: 10.1007/s10897-011-9383-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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