{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T14:56:54Z","timestamp":1788188214497,"version":"build-2803163510"},"reference-count":0,"publisher":"Ordem dos Medicos","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Med Port"],"abstract":"<jats:p>Introduction: The national protocol of genetic counselling and pre-symptomatic testing for late-onset neurological diseases began\u00a0in Portugal in 1995. Initially, it was accessible only to adults at-risk for Machado-Joseph disease, but was later extended to other\u00a0hereditary ataxias, to Huntington\u2019s disease and to familial amyloid polyneuropathy caused by Val30Met mutation at the transthyretin\u00a0gene. The aim of this study was to describe the profile of the population seeking pre-symptomatic testing, while also reflecting on the\u00a0experience of conducting the protocol of multidisciplinary sessions since 1996.Material and Methods: We conducted a retrospective study and collected data from clinical records of consultands who requested\u00a0pre-symptomatic testing at our centre in Porto (Portugal) during the first twenty years of practice (1996 - 2015).Results: A total of 1446 records were reviewed. The most common reason for testing was to reduce uncertainty (41.7%). The rate of\u00a0withdrawals before results disclosure was lower (16%) than reported in other international experiences with pre-symptomatic testing,\u00a0while 45% of the consultands dropped out the protocol after learning the test results (73.5% of them were non-carriers). As far as the\u00a0mutation carriers were concerned, 29.6% adhered to the protocol a year after test disclosure. Consultands that had learned about presymptomatic\u00a0testing through healthcare professionals tended to adhere more to pre-symptomatic testing consultations.Discussion: The profile of Portuguese consultands at risk for late-onset neurological diseases is similar to those reported in other\u00a0international programs. The largest group in this data set was the one comprising the subjects at risk for familial amyloid polyneuropathy\u00a0caused by Val30Met mutation at the transthyretin gene, and it is likely that therapeutic options for this condition may have influenced\u00a0this result. Adherence to pre-symptomatic testing may change in the future since effective therapies are available (or given the fact that\u00a0people think effective treatments are imminent).Conclusion: This study reflects the first comprehensive description of a Portuguese experience with pre-symptomatic testing for late onset\u00a0neurological diseases. The development of innovative approaches to improve the consultands\u2019 experience with pre-symptomatic\u00a0testing and their engagement in genetic departments is still a challenge in Portuguese genetics healthcare departments. A better\u00a0coordination among primary care and genetics healthcare services is needed.<\/jats:p>","DOI":"10.20344\/amp.10526","type":"journal-article","created":{"date-parts":[[2019,11,13]],"date-time":"2019-11-13T17:22:51Z","timestamp":1573665771000},"page":"295-304","source":"Crossref","is-referenced-by-count":24,"title":["Twenty Years of a Pre-Symptomatic Testing Protocol for Late-Onset Neurological Diseases in Portugal"],"prefix":"10.20344","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6535-4315","authenticated-orcid":false,"given":"Milena","family":"Paneque","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joana","family":"F\u00e9lix","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c1lvaro","family":"Mendes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina","family":"Lemos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susana","family":"L\u00eado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo\u00e3o","family":"Silva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge","family":"Sequeiros","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"8464","published-online":{"date-parts":[[2019,4,30]]},"container-title":["Acta M\u00e9dica Portuguesa"],"original-title":[],"link":[{"URL":"https:\/\/www.actamedicaportuguesa.com\/revista\/index.php\/amp\/article\/download\/10526\/5661","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.actamedicaportuguesa.com\/revista\/index.php\/amp\/article\/download\/10526\/5661","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,10,24]],"date-time":"2022-10-24T22:37:00Z","timestamp":1666651020000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.actamedicaportuguesa.com\/revista\/index.php\/amp\/article\/view\/10526"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,4,30]]},"references-count":0,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2019,4,30]]}},"URL":"https:\/\/doi.org\/10.20344\/amp.10526","relation":{},"ISSN":["1646-0758","0870-399X"],"issn-type":[{"value":"1646-0758","type":"electronic"},{"value":"0870-399X","type":"print"}],"subject":[],"published":{"date-parts":[[2019,4,30]]}}}