{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T07:02:40Z","timestamp":1779951760993,"version":"3.53.1"},"reference-count":27,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T00:00:00Z","timestamp":1779926400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Health Serv."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Friedreich's ataxia (FA) is a rare progressive and multi systemic neurodegenerative disorder characterized by loss of coordination, typically resulting in loss of ambulation. Cardiomyopathy, diabetes mellitus, and scoliosis are common and serious manifestations of the disease. This project explores the FA patient pathways, healthcare use and costs, and compares people's care experiences attending specialist ataxia centres (SAC) with care in non\u2013specialist settings in three European countries.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We collected data in the UK, Germany and Italy using a patient survey, to gather information about the diagnosis and the management of the ataxias in SAC and non-SAC settings, healthcare visits, and patient's satisfaction. We compared per-patient mean resource use for each contact type and health service cost, stratifying patients by SAC attendance.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Our cohort is 97 patients with FA over 16 years old, living in UK (\n                      <jats:italic>N<\/jats:italic>\n                      \u2009=\u200927), Germany (\n                      <jats:italic>N<\/jats:italic>\n                      \u2009=\u200914) and Italy (\n                      <jats:italic>N<\/jats:italic>\n                      \u2009=\u200956) with a confirmed diagnosis of FA. This cohort valued the SAC services in understanding their condition, offering opportunities to take part in research, and delivering care adapted to their needs. Our results highlight the patient's appreciation for SAC services compared to non-SAC without any significant change in costs. We identified similar barriers for patients in accessing SACs in the selected countries.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This study shows the value of SAC specifically for the management of complex rare conditions like FA. The outcomes of our work will be used for policy recommendations on how to improve treatment and care for people with rare neurological disorders across Europe.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/frhs.2026.1817584","type":"journal-article","created":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T06:17:47Z","timestamp":1779949067000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Friedreich's ataxia patient pathway in Europe"],"prefix":"10.3389","volume":"6","author":[{"given":"Julie","family":"Vallortigara","sequence":"first","affiliation":[{"name":"Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology","place":["London, United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Greenfield","sequence":"additional","affiliation":[{"name":"Ataxia UK","place":["London, United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barry","family":"Hunt","sequence":"additional","affiliation":[{"name":"Ataxia UK","place":["London, United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bart-Jan","family":"Schuman","sequence":"additional","affiliation":[{"name":"Friedreich Ataxie F\u00f6rderverein e.V.","place":["Pliening, Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Hoffman","sequence":"additional","affiliation":[{"name":"Takeda Pharmaceuticals","place":["Cambridge, MA, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzanne","family":"Booth","sequence":"additional","affiliation":[{"name":"Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology","place":["London, United 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