{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T03:38:31Z","timestamp":1771472311142,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2002,11,11]],"date-time":"2002-11-11T00:00:00Z","timestamp":1036972800000},"content-version":"vor","delay-in-days":10,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2002,11]]},"abstract":"<jats:p>Controversial data have been reported about SCA8 since its description in 1999. The most accepted hypothesis is that CTG expansions within the CTA\/CTG combined repeat expansion in the <jats:italic>SCA8<\/jats:italic> locus causes SCA8. It is inherited as a dominant trait with reduced penetrance. The present study, reports the first data regarding SCA8 in the Spanish population and the clinical findings in patients carrying expanded alleles, including one homozygous patient. Two hundred and forty\u2010six individuals from the Spanish population,<\/jats:p><jats:p>including controls (149) and ataxic patients (97), were studied. DNA was extracted from blood samples using standard methods. Amplification of the CTA\/CTG 3\u2032untranslated region was achieved by PCR using primers SCA8\u2010F3 and SCA8\u2010R4 and conditions described previously. Neurological revaluation was done in individuals carrying the expanded allele. We detected five unrelated expanded alleles corresponding to three affected patients (one of them homozygous) and one healthy individual. SCA8 represents 4% of the total dominant spinocerebellar ataxias studied in our group (Spanish population) (three index patients out of 75 dominant ataxic independent nucleus). The patient that resulted homozygous for the expansion is a 25\u2010year\u2010old man with a clinical picture of progressive ataxia and dysarthria that began at the age of 12. On neurological examination, he showed ataxia, slight dysarthria and nystagmus to the extreme lateral gaze. A cranial MRI showed global atrophy of cerebellum but the brainstem was spared. Family history showed the presence of ataxia in his grandfather and father. His mother is healthy at the age of 52 and a molecular study of <jats:italic>SCA8<\/jats:italic> reveals one allele that could be considered as premutated. She has no ataxia antecedents in her family. Our results provide additional information about the <jats:italic>SCA8<\/jats:italic> expansion, within the Spanish population. These results are in agreement with the hypothesis of the CTG expansion in the <jats:italic>SCA8<\/jats:italic> locus being responsible for the SCA8 ataxia showing reduced penetrance. Besides homozygous status, advancing age at onset (as previously described for other SCAs) supports this idea.<\/jats:p>","DOI":"10.1034\/j.1399-0004.2002.620509.x","type":"journal-article","created":{"date-parts":[[2003,3,11]],"date-time":"2003-03-11T11:30:32Z","timestamp":1047382232000},"page":"404-409","source":"Crossref","is-referenced-by-count":17,"title":["SCA8 in the Spanish population including one homozygous patient"],"prefix":"10.1111","volume":"62","author":[{"given":"B","family":"Taz\u00f3n","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Badenas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Jim\u00e9nez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Mu\u00f1oz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Mil\u00e0","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,11,11]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/114.2.855"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/7710"},{"issue":"4","key":"e_1_2_7_4_2","first-page":"A466","article-title":"Massive CTG expansions and deletions may reduce penetrance of spinocerebellar ataxia type 8","volume":"65","author":"Ranum LPW","year":"1999","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/79911"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.10.1543"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/73408"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/73411"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/73415"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.14.2125"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1086\/302827"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.5.649"},{"key":"e_1_2_7_13_2","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","article-title":"A simple out procedure for extracting DNA from human nucleated cells","volume":"16","author":"Miller SA","year":"1998","journal-title":"Nucleic Acids Res"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.1999.00368.x"},{"issue":"4","key":"e_1_2_7_15_2","first-page":"A247","article-title":"Screening of the SCA8 expansion","volume":"65","author":"Durr A","year":"1999","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050997"},{"key":"e_1_2_7_17_2","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1159\/000472162","article-title":"Machado\u2010Joseph disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation","volume":"4","author":"Lerer I","year":"1996","journal-title":"Eur J Hum Genet"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2000.580112.x"},{"key":"e_1_2_7_19_2","first-page":"1283","article-title":"Spinocerebellar ataxia type 6. Molecular and clinical features of 35 Japanese patients including one homozygous for the CAG repeat expansion","volume":"49","author":"Matsumara R","year":"1997","journal-title":"Neurology"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410360318"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.45.10.1934"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1034%2Fj.1399-0004.2002.620509.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1034%2Fj.1399-0004.2002.620509.x","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1034\/j.1399-0004.2002.620509.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T23:06:43Z","timestamp":1697497603000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1034\/j.1399-0004.2002.620509.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,11]]},"references-count":20,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2002,11]]}},"alternative-id":["10.1034\/j.1399-0004.2002.620509.x"],"URL":"https:\/\/doi.org\/10.1034\/j.1399-0004.2002.620509.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,11]]}}}