{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T11:39:51Z","timestamp":1789990791248,"version":"4.0.1"},"reference-count":38,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neurodegener Dis"],"published-print":{"date-parts":[[2014]]},"abstract":"<b><i>Background:<\/i><\/b> Hereditary spastic paraplegias constitute a heterogeneous group of inherited neurodegenerative disorders. To date, there has been no systematic mutation and clinical analysis for a large group of autosomal-dominant hereditary spastic paraplegias in China. <b><i>Objective:<\/i><\/b> The purpose of this study was to investigate the mutation frequencies and the clinical phenotypes of Chinese spastic paraplegia patients. <b><i>Methods:<\/i><\/b> Direct sequencing and a multiplex ligation-dependent probe amplification assay were applied to detect the mutations of <i>SPAST<\/i> and <i>ATL1<\/i> in 54 autosomal-dominant hereditary spastic paraplegia probands and 66 isolated cases. Next, mutations in <i>NIPA1<\/i>, <i>KIF5A<\/i>, <i>REEP1<\/i> and <i>SLC33A1<\/i> were detected in the negative patients. Subsets of spastic paraplegia patients were genotyped for the modifying variants. Further, detailed clinical data regarding the genetically diagnosed families were analysed. <b><i>Results:<\/i><\/b> Altogether, 27 families were diagnosed as SPG4, 3 as SPG3A and 1 as SPG6. No mutations in <i>KIF5A<\/i>, <i>REEP1<\/i> or <i>SLC33A1 <\/i>were found; 9 <i>SPAST<\/i> mutations were novel. There was no p.S44L or p.P45Q variant in <i>SPAST<\/i> and no p.G563A variant in<i> HSPD1<\/i> in either the 120 spastic paraplegia patients or the 500 controls. There was a remarkable clinical difference between the SPG4 and non-SPG4 patients and even between genders among the SPG4 patients. Non-penetrance and remarkable gender difference were observed in some SPG4 and SPG3A families. <b><i>Conclusions:<\/i><\/b> Our data confirm that hereditary spastic paraplegias in China represent a heterogeneous group of genetic neurodegenerative disorders in autosomal-dominant and apparently sporadic forms. Novel genotype-phenotype correlations were established.<\/jats:p>","DOI":"10.1159\/000365513","type":"journal-article","created":{"date-parts":[[2014,10,22]],"date-time":"2014-10-22T06:32:06Z","timestamp":1413959526000},"page":"176-183","source":"Crossref","is-referenced-by-count":19,"title":["Mutation and Clinical Characteristics of Autosomal-Dominant Hereditary Spastic Paraplegias in 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