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One kindred was characterized by paroxysmal ataxia and in one member, paroxysmal choreoathetosis. The last kindred had brief attacks of ataxia and interictal neuromyotonia. The age of onset and severity of the disorder varied within each kindred. These kindreds illustrate the heterogenity of episodic ataxia as well as the variable expressivity within each kindred.<\/jats:p>","DOI":"10.1002\/mds.870010404","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T06:52:50Z","timestamp":1104562370000},"page":"239-253","source":"Crossref","is-referenced-by-count":88,"title":["Autosomal dominant episodic ataxia: A heterogeneous syndrome"],"prefix":"10.1002","volume":"1","author":[{"given":"Stephen T.","family":"Gancher","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John G.","family":"Nutt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,5,23]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"1","article-title":"Familial periodic ataxia","volume":"106","author":"Margolin D","year":"1982","journal-title":"Trans Am Neurol Assoc"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.33.9.1212"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(84)90059-5"},{"key":"e_1_2_1_5_2","first-page":"573","volume-title":"Handbook of clinical neurology","author":"Salam M","year":"1975"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410080514"},{"key":"e_1_2_1_7_2","first-page":"642","article-title":"Periodic ataxia","volume":"38","author":"Parker HL","year":"1946","journal-title":"Coll Papers Mayo Clin"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1963.00460050021002"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1968.00470340036002"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1969.00480090064010"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.28.12.1259"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1979.00500450062011"},{"issue":"1","key":"e_1_2_1_13_2","first-page":"276","article-title":"Acetozolamide responsive hereditary paroxysmal ataxia","volume":"36","author":"Friedman JH","year":"1986","journal-title":"Neurology"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(75)90191-4"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410010203"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.32.10.1184"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.46.4.345"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1983.04050060081016"},{"key":"e_1_2_1_19_2","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1542\/peds.65.1.74","article-title":"Paroxysmal choreoathetosis: report of five cases and review of the literature","volume":"65","author":"Kinast M","year":"1980","journal-title":"Pediatrics"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410020405"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.49.5.591"},{"key":"e_1_2_1_22_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.43.4.296"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/87.1.141"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.870010404","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.870010404","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T12:49:14Z","timestamp":1760964554000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.870010404"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,1]]},"references-count":22,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1986,1]]}},"alternative-id":["10.1002\/mds.870010404"],"URL":"https:\/\/doi.org\/10.1002\/mds.870010404","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[1986,1]]}}}