{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T00:16:21Z","timestamp":1791850581988,"version":"4.3.4"},"reference-count":18,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2007,5,21]],"date-time":"2007-05-21T00:00:00Z","timestamp":1179705600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2007,8,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Our objective was to estimate the frequency as well as to establish the clinical and neuroimaging profile of hereditary spastic paraplegia with thin corpus callosum (HSP\u2010TCC). HSP\u2010TCC was recognized as a specific clinical subtype of HSP and mapped to chromosome (ch) 15q13\u201015 in Japanese families. It has been considered rare in western countries. We assessed 45 patients with autosomal recessive HSP from 20 different families in search of clinical and imaging criteria for the diagnosis of HSP\u2010TCC. In addition, HSP\u2010TCC patients underwent further neurological, imaging and genetic evaluation. MRI scans were performed in a 2T scanner and sagittal T1 weighted images used for semiautomated volumetric measurements of corpus callosum, cerebellum, and brain. In seven patients, a 2\u2010year follow\u2010up MRI scan was performed. We genotyped seven microsatellite markers flanking the 15q13\u201015 candidate region and calculated two\u2010point and multipoint LOD scores (Z). We identified 13 patients from seven unrelated families with HSP\u2010TCC. MRI showed significant corpus callosum, cerebral and cerebellar volumetric reductions (<jats:italic>P<\/jats:italic> &lt; 0.001, <jats:italic>P<\/jats:italic> = 0.03, and <jats:italic>P<\/jats:italic> = 0.01, respectively). In the prospective analysis, we found progressive corpus callosum atrophy (<jats:italic>P<\/jats:italic> = 0.04). Two\u2010point and multipoint LOD scores were significantly negative for markers genotyped on ch 15q. However, independent pedigree analysis did not yield significant results. HSP\u2010TCC was found in 35% of families with autosomal recessive HSP. MRI volumetry showed cerebral and cerebellar atrophy in association with progressive corpus callosum thinning. Genetic studies did not show evidence for linkage to ch 15q. \u00a9 2007 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.21480","type":"journal-article","created":{"date-parts":[[2007,5,21]],"date-time":"2007-05-21T16:29:06Z","timestamp":1179764946000},"page":"1556-1562","source":"Crossref","is-referenced-by-count":38,"title":["Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum"],"prefix":"10.1002","volume":"22","author":[{"suffix":"Jr.","given":"Marcondes C.","family":"Fran\u00e7a","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anelyssa","family":"D'Abreu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cl\u00e1udia 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