{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T17:40:10Z","timestamp":1760982010560},"reference-count":32,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2007,4,17]],"date-time":"2007-04-17T00:00:00Z","timestamp":1176768000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2007,6,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Recent reports suggest that CAG triplet expansions of spinocerebellar ataxia type 2 and 3 (<jats:italic>SCA2<\/jats:italic> and <jats:italic>SCA3<\/jats:italic>) genes are the cause of typical levodopa\u2010responsive Parkinson's disease (PD) in familial cases, several of which were ethnic Chinese. To investigate the role of <jats:italic>SCA2<\/jats:italic> and <jats:italic>SCA3<\/jats:italic> mutations in Chinese familial and early\u2010onset PD patients, we analyzed CAG triplet repeat expansions of <jats:italic>SCA2<\/jats:italic> and <jats:italic>SCA3<\/jats:italic> genes in a cohort of 73 Taiwanese\/Ethnic Chinese familial and early\u2010onset PD patients [mean age at onset 42.70\u2009\u00b1\u20097.17 years (mean\u2009\u00b1\u2009SD)]. Thirteen of them (17.8%) had positive family history. All patients received comprehensive clinical evaluation including a thorough neurological examination, laboratory tests, and neuroimaging studies to exclude secondary causes and atypical parkinsonism. The CAG repeat length in these genes was determined using polymerase chain reaction polyacrylamide gel electrophoresis. <jats:italic>SCA2<\/jats:italic> gene CAG repeats ranged from 15 to 26 repeats with a median of 20, and <jats:italic>SCA3<\/jats:italic> gene CAG repeats ranged from 15 to 40 with a median of 15. No long pathogenic repeats were found in either <jats:italic>SCA2<\/jats:italic> or <jats:italic>SCA3<\/jats:italic>, although borderline CAG repeat number was detected in the <jats:italic>SCA3<\/jats:italic> gene of four patients. Thus, mutations of <jats:italic>SCA2<\/jats:italic> or <jats:italic>SCA3<\/jats:italic> did not play a major role in familial or early\u2010onset PD in our study cohort. PD patients without autosomal dominant family history or obvious cerebellar ataxia should not be candidates for routine screening of <jats:italic>SCA2<\/jats:italic> or <jats:italic>SCA3<\/jats:italic> mutations for cost\u2010effectiveness. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.b.30427","type":"journal-article","created":{"date-parts":[[2007,4,17]],"date-time":"2007-04-17T17:18:26Z","timestamp":1176830306000},"page":"434-438","source":"Crossref","is-referenced-by-count":8,"title":["Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (ethnic Chinese) cohort of familial and early\u2010onset parkinsonism"],"prefix":"10.1002","volume":"144B","author":[{"given":"Chin\u2010Hsien","family":"Lin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wuh\u2010Liang","family":"Hwu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shu\u2010Chuan","family":"Chiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chun\u2010Hwei","family":"Tai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruey\u2010Meei","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,4,17]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1077209"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004010050989"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000035625.19871.DC"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20074"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.56.1.33"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.6.800"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.58.2.296"},{"key":"e_1_2_5_9_1","unstructured":"HansonM HusseyJ SingletonAA et al.2002.SCA2 expansion carriers may present with clinical Parkinson's disease. 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