{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T10:29:21Z","timestamp":1780050561742,"version":"3.53.1"},"reference-count":18,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,9,30]],"date-time":"2024-09-30T00:00:00Z","timestamp":1727654400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["headachejournal.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Headache"],"published-print":{"date-parts":[[2025,2]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n \n Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura. Variants in calcium voltage\u2010gated channel subunit alpha1 A (\n CACNA1A<\/jats:italic>\n ), ATPase Na+\/K+ transporting subunit alpha 2 (\n ATP1A2<\/jats:italic>\n ), and sodium voltage\u2010gated channel alpha subunit 1 (\n SCN1A<\/jats:italic>\n ) genes have a well\u2010established association with the development of FHM. Recent studies suggest that other genes may also have a significant role in the pathogenesis of FHM, including proline\u2010rich transmembrane protein 2 (\n PRRT2<\/jats:italic>\n ). To our knowledge, there are currently no documented reports of the use of monoclonal antibodies targeting calcitonin gene\u2010related peptide in FHM caused by a specific identified genetic mutation \u2013 and in particular not in FHM associated with\n PRRT2<\/jats:italic>\n mutations. The aim of our work is to describe the efficacy of galcanezumab as a prophylaxis treatment on patients from an Italian family consisting of six patient carriers of a\n PRRT2<\/jats:italic>\n pathogenic variant.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n Inclusion criteria for treatment eligibility consisted of a confirmed diagnosis of genetically confirmed FHM as defined by the International Classification of Headache Disorders, third edition, number of headache days\/month \u22654, and at least two previously failed migraine prophylaxis treatments. We evaluated clinical data of patients treated with galcanezumab regarding number of headache days\/month, frequency of aura, disability caused by HM using the Migraine Disability Assessment (MIDAS), attack severity through a numerical rating scale (NRS), acute medications intake, and response to acute medications at baseline (t0) and after 3 (t1) and 6 (t2) months of treatment.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n Three out of six family members met inclusion criteria for treatment with galcanezumab. The average number of headache days\/month, acute medications, and MIDAS significantly decreased in all treated patients, as well as the average NRS score. Aura frequency reduced by \u226550% compared to the baseline in all three patients. No adverse events related to galcanezumab were reported.<\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n Galcanezumab is a valid and well\u2010tolerated treatment option in\n PRRT2<\/jats:italic>\n \u2010associated FHM.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/head.14840","type":"journal-article","created":{"date-parts":[[2024,9,30]],"date-time":"2024-09-30T08:18:47Z","timestamp":1727684327000},"page":"377-381","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Efficacy of galcanezumab in proline\u2010rich transmembrane protein 2\n \n (\n PRRT2<\/i>\n )\n <\/scp>\n \u2010associated familial hemiplegic migraine: A case series"],"prefix":"10.1111","volume":"65","author":[{"given":"Costanza","family":"Sottani","sequence":"first","affiliation":[{"name":"Neurology Section, Department of Neuroscience Universit\u00e0 Cattolica del Sacro Cuore Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Di Lazzaro","sequence":"additional","affiliation":[{"name":"Neurology Section, Department of Neuroscience Universit\u00e0 Cattolica del Sacro Cuore Rome Italy"},{"name":"UOC Neurologia Fondazione Policlinico Universitario \u201cA. Gemelli\u201d IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Calabresi","sequence":"additional","affiliation":[{"name":"Neurology Section, Department of Neuroscience Universit\u00e0 Cattolica del Sacro Cuore Rome Italy"},{"name":"UOC Neurologia Fondazione Policlinico Universitario \u201cA. Gemelli\u201d IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Grazia","family":"Pomponi","sequence":"additional","affiliation":[{"name":"UOC Genetica Medica Fondazione Policlinico Universitario \u201cA. Gemelli\u201d IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco Danilo","family":"Tiziano","sequence":"additional","affiliation":[{"name":"UOC Genetica Medica Fondazione Policlinico Universitario \u201cA. Gemelli\u201d IRCCS Rome Italy"},{"name":"Section of Genomic Medicine, Department of Public Health and Life Sciences Universit\u00e0 Cattolica del Sacro Cuore Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna Rita","family":"Bentivoglio","sequence":"additional","affiliation":[{"name":"Neurology Section, Department of Neuroscience Universit\u00e0 Cattolica del Sacro Cuore Rome Italy"},{"name":"UOC Neurologia Fondazione Policlinico Universitario \u201cA. Gemelli\u201d IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serenella","family":"Servidei","sequence":"additional","affiliation":[{"name":"Neurology Section, Department of Neuroscience Universit\u00e0 Cattolica del Sacro Cuore Rome Italy"},{"name":"UOC Neurofisiopatologia Fondazione Policlinico Universitario \u201cA. Gemelli\u201d IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catello","family":"Vollono","sequence":"additional","affiliation":[{"name":"Neurology Section, Department of Neuroscience Universit\u00e0 Cattolica del Sacro Cuore Rome Italy"},{"name":"UOC Neurofisiopatologia Fondazione Policlinico Universitario \u201cA. Gemelli\u201d IRCCS Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,9,30]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1468-2982.2002.00371.x"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1177\/0333102417738202"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-023-01277-z"},{"key":"e_1_2_10_5_1","first-page":"1","volume-title":"GeneReviews\u00ae","author":"Jen JC","year":"2021"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000004966"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000012947"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv317"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2016.03.005"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s10194-022-01431-x"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/head.14591"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1462399411002067"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1177\/0333102418774299"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1215435109"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1177\/0333102416678388"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/s10194-023-01656-4"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0232-19.2019"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0576-17.2017"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2021.629747"}],"container-title":["Headache: The Journal of Head and Face Pain"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/headachejournal.onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/head.14840","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T09:51:48Z","timestamp":1762077108000},"score":1,"resource":{"primary":{"URL":"https:\/\/headachejournal.onlinelibrary.wiley.com\/doi\/10.1111\/head.14840"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,30]]},"references-count":18,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,2]]}},"alternative-id":["10.1111\/head.14840"],"URL":"https:\/\/doi.org\/10.1111\/head.14840","archive":["Portico"],"relation":{},"ISSN":["0017-8748","1526-4610"],"issn-type":[{"value":"0017-8748","type":"print"},{"value":"1526-4610","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,9,30]]},"assertion":[{"value":"2024-05-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-07-12","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-09-30","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}