{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,4,21]],"date-time":"2024-04-21T00:25:16Z","timestamp":1713659116370},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,2,15]],"date-time":"2022-02-15T00:00:00Z","timestamp":1644883200000},"content-version":"vor","delay-in-days":14,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2022,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Unverricht\u2010Lundborg disease (ULD), also called progressive myoclonic epilepsy type 1, is usually characterized by the presence of ataxia associated with myoclonus and epileptic seizures without progressive cognitive deficit, presenting during late childhood and early adolescence. Currently, there is a growing body of evidence for atypical presentations of the disease with a milder phenotype or without the full symptomatology. We describe a case report of a late\u2010onset phenotype with progressive myoclonus\u2010ataxia syndrome accompanied by initial recurrent falls, resulting in specific phobia and agoraphobia starting at the age of 50 years old. The examination revealed multifocal myoclonus with cerebellar ataxia and electroencephalogram showed generalized polyspikes and spike\u2010wave discharges. Electromyogram revealed positive myoclonus of 60\u2010ms duration in the face and the presence of C reflex. A genetic study confirmed the diagnosis of ULD in the patient and other additional family members, presenting a wide range of intra\u2010familial variability. We discuss the challenging differential diagnosis for such a misleading presentation and its possible underlying pathophysiological mechanisms. Our case report may contribute to broadening the age and clinical boundaries for this disease and emphasizes the intra\u2010familial age and symptom variability. Based on a suggestive family history, the diagnosis of ULD should be considered in this context, even in older patients.<\/jats:p>","DOI":"10.1684\/epd.2021.1372","type":"journal-article","created":{"date-parts":[[2022,2,4]],"date-time":"2022-02-04T11:53:42Z","timestamp":1643975622000},"page":"163-170","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Major intra\u2010familial variability in Unverricht\u2010Lundborg disease"],"prefix":"10.1002","volume":"24","author":[{"given":"Amina","family":"Nasri","sequence":"first","affiliation":[{"name":"Neurology Department, LR18SP03 Razi University Hospital  1 rue des Orangers Manouba, PC : 2010 Tunis Tunisia"},{"name":"Faculty of Medicine of Tunis University of Tunis El Manar  15, Rue Djebel Akhdhar La Rabta 1007 Tunis Tunisia"},{"name":"Clinical Investigation Center (CIC) Razi University Hospital  1 rue des Orangers, la Manouba, PC : 2010 Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabrina","family":"Zidi","sequence":"additional","affiliation":[{"name":"Neurology Department, LR18SP03 Razi University Hospital  1 rue des Orangers Manouba, PC : 2010 Tunis Tunisia"},{"name":"Faculty of Medicine of Tunis University of Tunis El Manar  15, Rue Djebel Akhdhar La Rabta 1007 Tunis Tunisia"},{"name":"Clinical Investigation Center (CIC) Razi University Hospital  1 rue des Orangers, la Manouba, PC : 2010 Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Imen","family":"Kacem","sequence":"additional","affiliation":[{"name":"Neurology Department, LR18SP03 Razi University Hospital  1 rue des Orangers Manouba, PC : 2010 Tunis Tunisia"},{"name":"Faculty of Medicine of Tunis University of Tunis El Manar  15, Rue Djebel Akhdhar La Rabta 1007 Tunis Tunisia"},{"name":"Clinical Investigation Center (CIC) Razi University Hospital  1 rue des Orangers, la Manouba, PC : 2010 Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saloua","family":"Mrabet","sequence":"additional","affiliation":[{"name":"Neurology Department, LR18SP03 Razi University Hospital  1 rue des Orangers Manouba, PC : 2010 Tunis Tunisia"},{"name":"Faculty of Medicine of Tunis University of Tunis El Manar  15, Rue Djebel Akhdhar La Rabta 1007 Tunis Tunisia"},{"name":"Clinical Investigation Center (CIC) Razi University Hospital  1 rue des Orangers, la Manouba, PC : 2010 Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mouna","family":"Ben Djebara","sequence":"additional","affiliation":[{"name":"Neurology Department, LR18SP03 Razi University Hospital  1 rue des Orangers Manouba, PC : 2010 Tunis Tunisia"},{"name":"Faculty of Medicine of Tunis University of Tunis El Manar  15, Rue Djebel Akhdhar La Rabta 1007 Tunis Tunisia"},{"name":"Clinical Investigation Center (CIC) Razi University Hospital  1 rue des Orangers, la Manouba, PC : 2010 Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amina","family":"Gargouri","sequence":"additional","affiliation":[{"name":"Neurology Department, LR18SP03 Razi University Hospital  1 rue des Orangers Manouba, PC : 2010 Tunis Tunisia"},{"name":"Faculty of Medicine of Tunis University of Tunis El Manar  15, Rue Djebel Akhdhar La Rabta 1007 Tunis Tunisia"},{"name":"Clinical Investigation Center (CIC) Razi University Hospital  1 rue des Orangers, la Manouba, PC : 2010 Tunis Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Leguern","sequence":"additional","affiliation":[{"name":"Institut national de la sant\u00e9 et de la recherche m\u00e9dicale (INSERM), U975, ICM, H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re, Paris Sorbonne Universit\u00e9s, Institut du Cerveau et de la Moelle \u00e9pini\u00e8re, ICM, Inserm U1127, CNRS UMR 7225, Paris, APHP, H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re, D\u00e9partement de 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