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Karger AG","issue":"1-4","license":[{"start":{"date-parts":[[2003,1,1]],"date-time":"2003-01-01T00:00:00Z","timestamp":1041379200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2003,1,1]],"date-time":"2003-01-01T00:00:00Z","timestamp":1041379200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cytogenet Genome Res"],"published-print":{"date-parts":[[2003]]},"abstract":"<jats:p>Spinocerebellar ataxia 7 (SCA7) is a progressive autosomal dominant neurodegenerative disorder characterized clinically by cerebellar ataxia associated with progressive macular dystrophy. The disease affects primarily the cerebellum and the retina, but also many other CNS structures as the disease progresses. SCA7 is caused by expansion of an unstable trinucleotide CAG repeat encoding a polyglutamine tract in the corresponding protein, ataxin-7. Normal SCA7 alleles contain 4\u201335 CAG repeats, whereas pathological alleles contain from 36\u2013306 CAG repeats. SCA7 has a number of features in common with other diseases with polyglutamine expansions: (i) the appearance of clinical symptoms above a threshold number of CAG repeats (&gt;35); (ii) a correlation between the size of the expansion and the rate of progression of the disease: the larger the repeat, the faster the progression; (iii) instability of the repeat sequence (\u223c12 CAG\/transmission) that accounts for the marked anticipation of \u223c20 years\/generation. The CAG repeat sequence is particularly unstable and de novo mutations can occur during paternal transmissions of intermediate size alleles (28\u201335 CAG repeats). This can explain the persistence of the disease in spite of the anticipation that should have resulted in its extinction.\u00a0\u00a0\u00a0<\/jats:p>","DOI":"10.1159\/000072850","type":"journal-article","created":{"date-parts":[[2003,10,6]],"date-time":"2003-10-06T10:00:52Z","timestamp":1065434452000},"page":"154-163","source":"Crossref","is-referenced-by-count":57,"title":["Spinocerebellar ataxia 7 (SCA7)"],"prefix":"10.1159","volume":"100","author":[{"given":"A.-S.","family":"Lebre","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Brice","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2003,10,15]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1006\/exer.2002.1169"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981012)79:5<383::AID-AJMG10>3.3.CO;2-U"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/ng0595-84"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/S0166-2236(00)01721-5"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/ng0997-65"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007\/s100480000100"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.13.8730"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1086\/302406"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038\/ng0595-89"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.2.720"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/ng0696-196"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1038\/ng0198-72"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050344"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1007\/s004010050161"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(99)00176-8"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1038\/ng0298-150"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1016\/S0169-328X(99)00256-9"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1021\/bi992694y"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.1999.560309.x"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1038\/20446"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1038\/ng0693-135"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(02)00399-2"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1038\/378403a0"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.15.9158"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/72850","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/72850","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:43:55Z","timestamp":1745466235000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000072850"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003]]},"references-count":24,"journal-issue":{"issue":"1-4","published-online":{"date-parts":[[2003,7,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000072850","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"value":"1424-8581","type":"print"},{"value":"1424-859X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003]]}}}