{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T10:57:43Z","timestamp":1789988263712,"version":"4.0.1"},"reference-count":21,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,12,16]],"date-time":"2022-12-16T00:00:00Z","timestamp":1671148800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,12,16]],"date-time":"2022-12-16T00:00:00Z","timestamp":1671148800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100007190","name":"Sveriges Regering","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007190","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009780","name":"Region Sk\u00e5ne","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011077","name":"Sk\u00e5nes universitetssjukhus","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100011077","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003252","name":"Lund University","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100003252","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cerebellum"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hereditary ataxia represents a heterogeneous group of rare disorders with the chronic progression of motor symptoms that often become debilitating. Many forms include additional neurological, cognitive, or other symptoms. Most of these disorders lack specific treatment. We aimed to investigate aspects of patients\u2019 quality of life, experiences, and expectations. Patients with a diagnosis of hereditary ataxia were identified from our center\u2019s diagnostic register, direct referrals, and from a patient organization. We designed a questionnaire with 32 multiple-choice or open-ended questions on disability and impairment of daily life activities, the perceived effect of symptomatic and supportive therapies, coping strategies, and how they used and experienced various sources of information about their neurological disease. We also included the EQ-5D-3L quality-of-life instrument. Results were analyzed statistically for gender, age, and groups with and without a genetic diagnosis, and were compared to published data from the general population. Seventy-five patients returned the questionnaire. Patients reported considerable disease-related disability and impairment and had significantly lower quality-of-life scores than the general population. Physiotherapy and support from family or friends were important for patients\u2019 overall well-being. Patients with a genetic diagnosis had a lower average age at onset and felt more well-informed about their disease than patients without a genetic diagnosis. Patients used internet sources but relied primarily on their doctors to obtain information about their disease. Our study provides insights into hereditary ataxia patients\u2019 experiences that can lead to improvements in medical and nursing care for these patients.<\/jats:p>","DOI":"10.1007\/s12311-022-01505-1","type":"journal-article","created":{"date-parts":[[2022,12,16]],"date-time":"2022-12-16T12:08:57Z","timestamp":1671192537000},"page":"82-91","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Patients\u2019 Perspective in Hereditary Ataxia"],"prefix":"10.1007","volume":"23","author":[{"given":"Sorina","family":"Gorcenco","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christin","family":"Karremo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Puschmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,12,16]]},"reference":[{"issue":"Pt 4","key":"1505_CR1","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1093\/brain\/121.4.589","volume":"121","author":"T Klockgether","year":"1998","unstructured":"Klockgether T, et al. 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Our study was ethically approved by the Regional Ethics Review Board responsible for Region Sk\u00e5ne (Dnr.2013\/516).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical Approval"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing Interest"}}]}}