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It is characterized by the accumulation of insoluble forms of aberrant glycogen in the brain and peripheral tissues. Given the urgent need for reliable tools to monitor disease progression, we aimed to identify reliable biomarkers in minimally invasive fluids, which could also provide valuable insights into the natural history of the disease. Plasma-EDTA samples from eleven LD patients and healthy controls were analyzed to identify potential biomarkers of LD using a high-throughput assay. The findings were subsequently validated using specific enzyme-linked immunosorbent assays (ELISAs). Eleven cytokines and growth factors were identified to be significantly reduced in LD patient samples compared to healthy controls. Among these, four mediators [platelet-derived growth factor subunit B (PDGF-BB), epidermal growth factor (EGF), brain derived growth factor (BDNF), and macrophage migration inhibitory factor (MIF)] exhibited the greatest fold change between the groups and were further validated. Given the minimally invasive nature of plasma sampling and the straightforward quantification via ELISA assays, these biomarkers hold strong promise for rapid translation to the clinic, potentially enhancing early diagnosis and longitudinal disease monitoring in LD patients.<\/jats:p>","DOI":"10.3390\/ijms26115354","type":"journal-article","created":{"date-parts":[[2025,6,3]],"date-time":"2025-06-03T06:21:51Z","timestamp":1748931711000},"page":"5354","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Identification of Plasma Growth Factors and Cytokines as Diagnostic Biomarkers for the Lafora Form of Progressive Myoclonus Epilepsy"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8759-8794","authenticated-orcid":false,"given":"Mireia","family":"Moreno-Estell\u00e9s","sequence":"first","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER)\u2014Instituto de Salud Carlos III, 46010 Valencia, Spain"},{"name":"Instituto de Biomedicina de Valencia, CSIC, Jaime Roig 11, 46010 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda","family":"Machio","sequence":"additional","affiliation":[{"name":"Neurology Department, Instituto de Investigaci\u00f3n Sanitaria Fundaci\u00f3n Jim\u00e9nez D\u00edaz, Madrid Autonomous University (IIS-FJD, UAM), 28040 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Neurology Department, Instituto de Investigaci\u00f3n Sanitaria Fundaci\u00f3n Jim\u00e9nez D\u00edaz, Madrid Autonomous University (IIS-FJD, UAM), 28040 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Albuixech","sequence":"additional","affiliation":[{"name":"Instituto de Biomedicina de Valencia, CSIC, Jaime Roig 11, 46010 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Abraira","sequence":"additional","affiliation":[{"name":"Epilepsy Unit, Neurology Department, Vall d\u2019Hebron University Hospital, Vall d\u2019Hebron Research Institute, Vall d\u2019Hebron Barcelona Hospital Campus, 08035 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel","family":"Quintana","sequence":"additional","affiliation":[{"name":"Epilepsy Unit, Neurology Department, Vall d\u2019Hebron University Hospital, Vall d\u2019Hebron Research Institute, Vall d\u2019Hebron Barcelona Hospital Campus, 08035 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1550-3316","authenticated-orcid":false,"given":"Manuel","family":"Toledo","sequence":"additional","affiliation":[{"name":"Epilepsy Unit, Neurology Department, Vall d\u2019Hebron University Hospital, Vall d\u2019Hebron Research Institute, Vall d\u2019Hebron Barcelona Hospital Campus, 08035 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina P.","family":"S\u00e1nchez","sequence":"additional","affiliation":[{"name":"Neurology Department, Instituto de Investigaci\u00f3n Sanitaria Fundaci\u00f3n Jim\u00e9nez D\u00edaz, Madrid Autonomous University (IIS-FJD, UAM), 28040 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 M.","family":"Serratosa","sequence":"additional","affiliation":[{"name":"Neurology Department, Instituto de Investigaci\u00f3n Sanitaria Fundaci\u00f3n Jim\u00e9nez D\u00edaz, Madrid Autonomous University (IIS-FJD, UAM), 28040 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2399-4103","authenticated-orcid":false,"given":"Pascual","family":"Sanz","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER)\u2014Instituto de Salud Carlos III, 46010 Valencia, Spain"},{"name":"Instituto de Biomedicina de Valencia, CSIC, Jaime Roig 11, 46010 Valencia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,6,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/BF02863929","article-title":"Beitrag zur histogpathologie der myoklonischen epilepsie","volume":"6","author":"Lafora","year":"1911","journal-title":"Gesamte Neurol. 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