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We provide our experience with the long-term follow-up of <jats:italic>CACNA1A<\/jats:italic> patients and their response to interval therapy.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>Patients with genetically confirmed non-polyglutamine <jats:italic>CACNA1A<\/jats:italic> disease were prospectively followed at the Center for Rare Movement Disorders of the Medical University of Innsbruck from 2004 to 2024.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>We recruited 41 subjects with non-polyglutamine <jats:italic>CACNA1A<\/jats:italic> disease, of which 38 (93%) familial cases. The mean age at the first examination was 35\u2009\u00b1\u200922\u00a0years. Disease onset was in the childhood\/adolescence in 31\/41 patients (76%). Developmental delay and episodic symptoms were the first disease manifestation in 9\/41 (22%) and 32\/41 (78%) patients respectively. Chronic neurological signs encompassed a cerebellar syndrome in 35\/41 (85%), which showed almost no progression during the observation period, as well as cognitive deficits in 9\/20 (45%, MOCA test score\u2009&lt;\u200926), psychiatric and behavioral symptoms in 11\/41(27%). Seizures occurred in two patients concomitant to severe hemiplegic migraine. At the last visit, 27\/41 patients (66%) required an interval prophylaxis (including acetazolamide, flunarizine, 4-aminopyridine, topiramate), which was efficacious in reducing the frequency and severity of episodic symptoms in all cases. In one patient in his 70ies with progressively therapy resistant hemiplegic migraine, treatment with the anti-CGRP antibody galcanezumab successfully reduced the frequency of migraine days from 4 to 1\/month.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Non-polyglutamine <jats:italic>CACNA1A<\/jats:italic> disease show an evolving age-dependent presentation. Interval prophylaxis is effective in reducing the burden of episodic symptoms.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s00415-024-12602-y","type":"journal-article","created":{"date-parts":[[2024,8,7]],"date-time":"2024-08-07T11:07:15Z","timestamp":1723028835000},"page":"6618-6627","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Natural history of non-polyglutamine CACNA1A disease in Austria"],"prefix":"10.1007","volume":"271","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0217-8630","authenticated-orcid":false,"given":"Elisabetta","family":"Indelicato","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"Nachbauer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias S.","family":"Amprosi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Maier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iris","family":"Unterberger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margarete","family":"Delazer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katharina","family":"Kaltseis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9836-2514","authenticated-orcid":false,"given":"Stefan","family":"Kiechl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gregor","family":"Broessner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Baumann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia","family":"Boesch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,8,7]]},"reference":[{"key":"12602_CR1","doi-asserted-by":"publisher","first-page":"86","DOI":"10.1038\/nrneurol.2011.228","volume":"8","author":"S Rajakulendran","year":"2012","unstructured":"Rajakulendran S, Kaski D, Hanna MG (2012) Neuronal P\/Q-type calcium channel dysfunction in inherited disorders of the CNS. 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