{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T04:01:04Z","timestamp":1773288064929,"version":"3.50.1"},"reference-count":41,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":2747,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1997,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Machado\u2010Joseph disease, an autosomal dominant multisystem motor degeneration, has been described mainly in people of Portuguese descent. Our report documents the presence of Machado\u2010Joseph disease in the Chinese population, based on the specific molecular marker of a CAG repeat array in the 3\u2032 end of the MJD gene. We screened 21 Chinese families with dominant spinocerebellar ataxia. The results showed that Machado\u2010Joseph disease with CAG expansion accounted for 52% of families with autosomal dominant cerebellar ataxia in this series. The clinical characteristics, besides the well\u2010documented cerebellar ataxia, dysarthria, nystagmus, corticospinal dysfunctions, a variable degree of facial muscle fasciculation, and proprioceptive loss, included loss of optokinetic nystagmus and autonomic nervous system dysfunction. The CAG repeat number in the MJD gene ranged from 14 to 39 among normal alleles, and from 63 to 81 among MJD alleles. There was a strong inverse correlation (\u03b3 = \u20130.77) between number of CAG repeats and age at symptom onset, accounting for 60% of the variance of age at onset. A strong clinical anticipation of age at onset existed in successive generations. Mild instabilities of expanded CAG repeat numbers during meiotic transmission occurred, with no significant difference according to the gender of the transmitting parent. Finally, brain metabolism in Machado\u2010Joseph disease, studied with positron emission tomography, was characterized by significant progressive regional hypometabolism in the occipital cortex, as well as the cerebellar hemispheres, vermis, and brainstem.<\/jats:p>","DOI":"10.1002\/ana.410410407","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T14:58:49Z","timestamp":1104591529000},"page":"446-452","source":"Crossref","is-referenced-by-count":54,"title":["Machado\u2010joseph disease: Clinical, molecular, and metabolic characterization in chinese kindreds"],"prefix":"10.1002","volume":"41","author":[{"given":"Bing\u2010wen","family":"Soon","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chung\u2010Hui","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ren\u2010Shyan","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Din\u2010E","family":"Shan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"1","article-title":"Clinical features and classification of inherited ataxias","volume":"61","author":"Harding AE","year":"1993","journal-title":"Adv Neurol"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.22.1.49"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(72)90137-2"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.26.8.703"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197706302962606"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.28.7.703"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.30.3.319"},{"key":"e_1_2_1_9_2","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1017\/S0317167100028122","article-title":"Dominantly inherited ataxias in Portugal","volume":"15","author":"Cunha L","year":"1988","journal-title":"Can J Neurol Sci"},{"key":"e_1_2_1_10_2","unstructured":"SequeirosJ.Origins and dissemination of MJD as another marker of Portuguese migration. 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