{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T17:08:37Z","timestamp":1777828117636,"version":"3.51.4"},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2011,1,13]],"date-time":"2011-01-13T00:00:00Z","timestamp":1294876800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2011,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Glucose transporter 1 deficiency syndrome (GLUT1\u2010DS) is due to heterozygous mutation of the glucose transporter type 1 gene (<jats:italic>GLUT1\/SLC2A1<\/jats:italic>). GLUT1\u2010DS is characterized by movement disorders, including paroxysmal exercise\u2010induced dystonia (PED), as well as seizures, mental retardation and hypoglycorrhachia. Tremor was recently shown to be part of the phenotype, but its clinical and electrophysiological features have not yet been described in detail, and GLUT1 tremor reports are rare. We describe two patients, a young woman and her mother, who were referred to us for tremor. We also systematically review published cases of GLUT1\u2010DS with tremor (14 cases, including ours), focusing on clinical features. In most cases (10\/14), the tremor, which involved the limbs and voice, fulfilled clinical criteria for dystonic tremor (DT), occurring in body areas affected by dystonia. Tremor was the only permanent symptom in 2 cases. Recordings, reported here for the first time, showed an irregular 6\u2010 to 8.5\u2010Hz tremor compatible with DT in our two patients. These findings show that tremor, and particularly DT, may be a presenting symptom of GLUT1\u2010DS. Patients who present with dystonic tremor, with or without mental retardation, seizures, movement disorders and\/or a family history, should therefore be screened for GLUT1\u2010DS.<\/jats:p>","DOI":"10.1007\/s10545-010-9264-6","type":"journal-article","created":{"date-parts":[[2011,1,12]],"date-time":"2011-01-12T11:07:26Z","timestamp":1294830446000},"page":"483-488","source":"Crossref","is-referenced-by-count":28,"title":["Dystonic tremor caused by mutation of the glucose transporter gene <i>GLUT1<\/i>"],"prefix":"10.1002","volume":"34","author":[{"given":"Anne","family":"Roubergue","sequence":"first","affiliation":[{"name":"AP\u2010HP, Service de Neurop\u00e9diatrie H\u00f4pital Trousseau Paris France"},{"name":"AP\u2010HP, Service de Neurologie H\u00f4pital St Antoine Paris France"},{"name":"Service de Neurologie H\u00f4pital Saint\u2010Antoine 184, rue du Faubourg Saint\u2010Antoine Paris Cedex12 75571 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emmanuelle","family":"Apartis","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Service de Physiologie H\u00f4pital St Antoine Paris France"},{"name":"Universit\u00e9 Pierre et Marie Curie\u2010Paris\u20106, CRICM \/Inserm UMR_S975 \/CNRS UMR 7225 Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Val\u00e9rie","family":"Mesnage","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Service de Neurologie H\u00f4pital St Antoine Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diane","family":"Doummar","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Service de Neurop\u00e9diatrie H\u00f4pital Trousseau Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Marc","family":"Trocello","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Centre National de R\u00e9f\u00e9rence de la Maladie de Wilson H\u00f4pital Lariboisi\u00e8re Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emmanuel","family":"Roze","sequence":"additional","affiliation":[{"name":"AP\u2010HP, F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re Paris France"},{"name":"AP\u2010HP, Centre d'Investigation Clinique 9503 INSERM Paris France"},{"name":"Universit\u00e9 Pierre et Marie Curie\u2010Paris\u20106 INSERM UMRS 952, CNRS UMR 7224 Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guillaume","family":"Taieb","sequence":"additional","affiliation":[{"name":"Service de Neurologie H\u00f4pital Gui de Chauliac Montpellier France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thierry Billette","family":"De Villemeur","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Service de Neurop\u00e9diatrie H\u00f4pital Trousseau Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandrine","family":"Vuillaumier\u2010Barrot","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Service de Biochimie A H\u00f4pital Bichat\u2010Claude Bernard Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie","family":"Vidailhet","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Pierre et Marie Curie\u2010Paris\u20106, CRICM \/Inserm UMR_S975 \/CNRS UMR 7225 Paris France"},{"name":"AP\u2010HP, F\u00e9d\u00e9ration des Maladies du Syst\u00e8me Nerveux H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Levy","sequence":"additional","affiliation":[{"name":"AP\u2010HP, Service de Neurologie H\u00f4pital St Antoine Paris France"},{"name":"Universit\u00e9 Pierre et Marie Curie\u2010Paris\u20106, CRICM \/Inserm UMR_S975 \/CNRS UMR 7225 Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,1,13]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20725"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2009.02.008"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199109053251006"},{"issue":"3","key":"e_1_2_3_5_1","first-page":"2","article-title":"Consensus statement of the movement disorder society on tremor. 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