Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.16/2230
Título: Corino de Andrade disease: mechanisms and impact on reproduction
Autor: Lopes, R.
Coelho, T.
Barros, A.
Sousa, M.
Palavras-chave: Transthyretin-related hereditary amyloidosis
physiopathology
genetics
sexual dysfunction
therapy
in vitro fertilization
Data: 1-Jun-2017
Editora: Brazilian Society of Assisted Reproduction
Citação: JBRA Assist Reprod. 2017 Jun 1;21(2):105-114
Resumo: Familial amyloid polyneuropathy was first described by Corino de Andrade in 1952 in Northern Portugal. It is a fatal autosomal dominant neurodegenerative disorder characterized by a progression of neurologic symptoms, beginning early in the reproductive life. The Transthyretin gene mutation originates a mutated protein that precipitates in the connective tissue as amyloid deposits. This disease is presently named Transthyretin-related hereditary amyloidosis. We performed an extensive review on this disease based on searches in Medical databases and in paper references. In this review, we briefly summarize the epidemiology and the mechanisms involved on amyloid deposition; we detailed how to evaluate the mechanisms implicated on the development of the major signs and symptoms associated with reproductive dysfunction; and we discuss the mechanisms involved in secondary sexual dysfunction after psychological treatments. Treatment of the disease is directed towards relieving specific symptoms in association with liver transplant, and molecular and genetic therapeutics. Although the current clinical trials indicate symptoms relief, no data on the reproductive function was reported. Thus, preimplantation genetic diagnosis is presently the only available technique that eradicates the disease as it avoids the birth of new patients.
Peer review: yes
URI: http://hdl.handle.net/10400.16/2230
DOI: 10.5935/1518-0557.20170025
ISSN: 1517-5693
1518-0557
Versão do Editor: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473703/
Aparece nas colecções:SNF - Artigos publicados em revistas indexadas na Medline

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