{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T19:30:38Z","timestamp":1769455838004,"version":"3.49.0"},"reference-count":25,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2009,5]]},"abstract":"<jats:sec>\n                  <jats:title>Background:<\/jats:title>\n                  <jats:p>Hereditary spastic paraplegia (HSP) with thin corpus callosum (HSP-TCC) is a frequent subtype of complicated HSP clinically characterised by slowly progressive spastic paraparesis with cognitive impairment and thin corpus callosum (TCC). <jats:italic>SPG11<\/jats:italic>, the gene associated with the major locus involved, encodes spatacsin, a protein of unknown function.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods:<\/jats:title>\n                  <jats:p>Different types of mutations were identified in patients with the complex form of HSP (cHSP) including TCC. We screened a series of 45 index patients with different types of cHSP with (n\u200a=\u200a10) and without (n\u200a=\u200a35) TCC.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results:<\/jats:title>\n                  <jats:p>Ten mutations, of which five are novel, were detected in seven patients. Of importance, three out of seven mutated patients present with cHSP without TCC. Among the novel mutations identified, we characterised a large intragenic rearrangement deleting 2.6 kb of the <jats:italic>SPG11<\/jats:italic> gene. The rearrangement is due to non-allelic homologous recombination between Alu sequences flanking the breakpoints.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions:<\/jats:title>\n                  <jats:p>These findings expand the mutation spectrum of <jats:italic>SPG11<\/jats:italic> and suggest that <jats:italic>SPG11<\/jats:italic> mutations may occur more frequently in familial than sporadic forms of cHSP without TCC. This helps to define further clinical and molecular criteria for a correct diagnosis of the <jats:italic>SPG11<\/jats:italic> related form of cHSP. In addition, the intragenic deletion detected here, and the mechanism involved, both provide clues to address the issue of <jats:italic>SPG11<\/jats:italic> missing mutant alleles previously reported.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2008.063321","type":"journal-article","created":{"date-parts":[[2009,2,6]],"date-time":"2009-02-06T23:32:34Z","timestamp":1233963154000},"page":"345-351","source":"Crossref","is-referenced-by-count":28,"title":["Point mutations and a large intragenic deletion in <i>SPG11<\/i> in complicated spastic paraplegia without thin corpus 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