{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T13:30:33Z","timestamp":1760707833129},"reference-count":21,"publisher":"Cold Spring Harbor Laboratory","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genome Res."],"published-print":{"date-parts":[[1996,9]]},"abstract":"<jats:p>Infantile onset spinocerebellar ataxia (IOSCA) is a progressive neurological syndrome exhibiting an autosomal recessive pattern of inheritance. The characteristic features were described in Finland in the beginning of 1990s. Having shown that IOSCA does not segregate with any of the markers linked to other hereditary ataxias and thus represents a genetically distinct disease, we assigned the locus of this new hereditary ataxia to 10q23.3-q24.1. To approximate the age of the Finnish IOSCA mutation and to investigate the possible existence of more than one mutation underlying the disease, the ancestors of 13 IOSCA families were identified by use of church records dating back to the 1500s. The IOSCA pedigrees were frequently merged, providing support for these having one common ancestor. Analysis of the extended IOSCA haplotypes exposed ancient recombination events and revealed one core haplotype of four markers on a region of approximately 2 cM, which was unequivocally present in 92% of disease chromosomes. Both genealogical and haplotype data thus suggest that a single IOSCA ancestral mutation was introduced into the Finnish population most probably approximately 30-40 generations ago before the time when the general east-west migration took place within Finland.<\/jats:p>","DOI":"10.1101\/gr.6.9.870","type":"journal-article","created":{"date-parts":[[2007,6,5]],"date-time":"2007-06-05T21:18:07Z","timestamp":1181078287000},"page":"870-875","source":"Crossref","is-referenced-by-count":16,"title":["Tracing an ancestral mutation: genealogical and haplotype analysis of the infantile onset spinocerebellar ataxia locus."],"prefix":"10.1101","volume":"6","author":[{"given":"T","family":"Varilo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Nikali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Suomalainen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"L\u00f6nnqvist","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Peltonen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"246","published-online":{"date-parts":[[1996,9,1]]},"reference":[{"key":"2021111810260551000_6.9.870.1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0994-83"},{"key":"2021111810260551000_6.9.870.2","unstructured":"Bj\u00c3\u00b6rses, P., Aaltonen, J. Vikman, A. Perheentupa, J. Chiumello, G. Dahl, N. Heideman, P. Hoorneg-Nijman, J.J.G. Mathivon, L. Mullis, P.E. Pohl, M. Zitzen, M. Romeo, G. Smith, C.S. Solyom, J. Zlotogora, J. and Peltonen. L. 1996. Genetic homogeneity of autoimmune polyglandular disease type I. Am. J. Hum. Genet. 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Res."},{"key":"2021111810260551000_6.9.870.12","first-page":"1088","article-title":"Random search for shared chromosomal regions in four affected individuals: The assignment of a new hereditary ataxia locus.","volume":"56","year":"1995","journal-title":"Am. J. Hum. Genet."},{"key":"2021111810260551000_6.9.870.13","unstructured":"Norio, R. 1981. Diseases of Finland and Scandinavia. In Biocultural aspects of disease (ed. H.R. Rothschild), pp. 359\u00e2\u0080\u0093414. Academic Press, New York, NY."},{"key":"2021111810260551000_6.9.870.14","first-page":"109","article-title":"Hereditary diseases in Finland.","volume":"5","year":"1973","journal-title":"Annals Clin. Res."},{"key":"2021111810260551000_6.9.870.15","first-page":"697","article-title":"Messages from an isolate: Lessons from the Finnish gene pool.","volume":"376","year":"1995","journal-title":"Biol. Chem."},{"key":"2021111810260551000_6.9.870.16","first-page":"695","article-title":"Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses.","volume":"55","year":"1994","journal-title":"Am. J. Hum. Genet."},{"key":"2021111810260551000_6.9.870.17","doi-asserted-by":"publisher","DOI":"10.1084\/jem.167.1.225"},{"key":"2021111810260551000_6.9.870.18","first-page":"3","article-title":"Climatic conditions for the cultivation of rye with reference to the history of settlement in Finland.","volume":"V","year":"1988","journal-title":"Fennoscandia archaeologica"},{"key":"2021111810260551000_6.9.870.19","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.3.164"},{"key":"2021111810260551000_6.9.870.20","first-page":"506","article-title":"Tracing ancestors for CLN5 mutation: Genealogical and linkage disequilibrium analysis in the Finnish population.","volume":"58","year":"1996","journal-title":"Am. J. Hum. Genet."},{"key":"2021111810260551000_6.9.870.21","unstructured":"Virrankoski P. 1961. Kokkolan pit\u00c3\u00a4j\u00c3\u00a4 yl\u00c3\u00a4osan historia. 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