{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T00:57:15Z","timestamp":1791161835555,"version":"4.1.0"},"reference-count":27,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2005,2,22]],"date-time":"2005-02-22T00:00:00Z","timestamp":1109030400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2005,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Primary focal dystonia (PFD) is known to be a clinically and genetically heterogeneous group of movement disorders. To evaluate the frequency of familial focal dystonia in a French population presenting with PFD, we screened 197 patients (150 index cases and 47 affected family members) presenting focal primary dystonia for the GAG deletion in the <jats:italic>DYT1<\/jats:italic> gene and analyzed linkage to the <jats:italic>DYT6<\/jats:italic>, <jats:italic>DYT7<\/jats:italic>, and <jats:italic>DYT13<\/jats:italic> loci in those who presented a family history. Fourteen families could be recruited and, among them 47 new symptomatic individuals could be identified by clinical examination. A group of 104 patients were without family history and 46 patients (30.7%) were found to have at least one first\u2010degree relative with dystonia. Mean age at onset was significantly later (55.4 \u00b1 14.0 years) in the blepharospasm group and earlier in patients with writer's cramp (35.8 \u00b1 14.0 years). The group of patients with family history showed a mean age at onset significantly earlier (39.2 \u00b1 18.0) than in patients without family history (47.4 \u00b1 14.4 years). Fourteen families demonstrated an autosomal mode of transmission and five families were studied further for genetic linkage analysis, but no significant linkage to one of the three loci could be observed. Our results illustrate the importance of genetic factors and the clinical heterogeneity of PFD. They indicate the existence of one or several as yet unmapped genes responsible for these diseases. \u00a9 2005 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.20398","type":"journal-article","created":{"date-parts":[[2005,2,22]],"date-time":"2005-02-22T19:17:05Z","timestamp":1109099825000},"page":"822-825","source":"Crossref","is-referenced-by-count":27,"title":["Clinical and genetic evaluation in a French population presenting with primary focal dystonia"],"prefix":"10.1002","volume":"20","author":[{"given":"Claire\u2010Marie","family":"Dhaenens","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Krystkowiak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"Douay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Charpentier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvain","family":"Bele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Dest\u00e9e","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"Sablonni\u00e8re","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,2,22]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.50.5_Suppl_5.S1"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1097\/00002826-200009000-00002"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0733-8619(05)70040-2"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000026474.12594.0D"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870060206"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.51.6.767"},{"key":"e_1_2_6_8_2","first-page":"457","article-title":"Writer's 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and cranial\u2010cervical dystonia (Meige's syndrome): familial occurrence","volume":"49","author":"Jankovic J","year":"1988","journal-title":"Adv Neurol"},{"key":"e_1_2_6_26_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.67.3.395"},{"key":"e_1_2_6_27_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.10077"},{"key":"e_1_2_6_28_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.10314"}],"container-title":["Movement 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