{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T08:22:01Z","timestamp":1779178921958,"version":"3.51.4"},"reference-count":39,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2005,4,25]],"date-time":"2005-04-25T00:00:00Z","timestamp":1114387200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2005,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report an autosomal recessive neurodegenerative disorder in 25 white members from a large inbred Brazilian family, 22 of whom were evaluated clinically. This condition is characterized by (1) subnormal vision secondary to apparently nonprogressive congenital optic atrophy; (2) onset of progressive spastic paraplegia in infancy; (3) onset of progressive motor and sensory axonal neuropathy in late childhood\/early adolescence; (4) dysarthria starting in the third decade of life; (5) exacerbated acoustic startle response; and (6) progressive joint contractures and spine deformities. Motor handicap was severe, and all patients were wheelchair bound after 15 years old. We performed a genome\u2010wide screen including 25 affected individuals and 49 of their unaffected relatives. Linkage was detected at 11q13 region with a maximum logarithm of odds score of +14.43, obtained with marker D11S1883. The candidate region, which lies between D11S1908 and D11S1889, encompasses \u223c4.8Mb and has more than 100 genes and expressed sequences. We propose the acronym SPOAN (<jats:italic>s<\/jats:italic>pastic <jats:italic>p<\/jats:italic>araplegia, <jats:italic>o<\/jats:italic>ptic <jats:italic>a<\/jats:italic>trophy, and <jats:italic>n<\/jats:italic>europathy) for this complex syndrome. Ann Neurol 2005;57:730\u2013737<\/jats:p>","DOI":"10.1002\/ana.20478","type":"journal-article","created":{"date-parts":[[2005,4,25]],"date-time":"2005-04-25T16:48:38Z","timestamp":1114447718000},"page":"730-737","source":"Crossref","is-referenced-by-count":53,"title":["Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13"],"prefix":"10.1002","volume":"57","author":[{"given":"Lucia I.","family":"Macedo\u2010Souza","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando","family":"Kok","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvana","family":"Santos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simone C.","family":"Amorim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Starling","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agnes","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karina","family":"Lezirovitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelina M. 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