{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T13:42:23Z","timestamp":1790516543378,"version":"4.1.0"},"reference-count":8,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2018,8,13]],"date-time":"2018-08-13T00:00:00Z","timestamp":1534118400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"the Ministry of Education, Culture, Sports, Science, and Technology, Japan","award":["JP18K07495"],"award-info":[{"award-number":["JP18K07495"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain Sciences"],"abstract":"<jats:p>Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative disorders characterized by weakness and spasticity of the lower extremities. HSPs are heterogeneous disorders that involve over 80 causative genes. The frequency of HSPs is estimated to be 10\u2013100\/1,000,000. With this background, the Japanese research group \u201cJapan Spastic Paraplegia Research Consortium: JASPAC\u201d was organized in 2006 to elucidate the molecular epidemiologies of HSPs in Japan and the molecular pathologies of HSPs. To date, the JASPAC has collected 714 HSP families and analyzed 488 index patients. We found 279 pathogenic variants or probable pathogenic variants of causative genes in the 488 HSP patients. According to our results, we found 178 families with autosomal dominant patients (65%), and 101 with autosomal recessive and sporadic patients (48%). We found 119 patients with SPG4, 17 with SPG3A, 15 with SPG31, 13 with SPG11, and 11 with SPG10. Other HSP genes were the cause in less than five patients. On the other hand, we could not find causative genes in 35% of the autosomal dominant patients, or 52% of the autosomal recessive and sporadic patients. We are now trying to find new causative genes and elucidate the molecular mechanisms underlying HSPs.<\/jats:p>","DOI":"10.3390\/brainsci8080153","type":"journal-article","created":{"date-parts":[[2018,8,13]],"date-time":"2018-08-13T11:27:13Z","timestamp":1534159633000},"page":"153","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":53,"title":["JASPAC: Japan Spastic Paraplegia Research Consortium"],"prefix":"10.3390","volume":"8","author":[{"given":"Kishin","family":"Koh","sequence":"first","affiliation":[{"name":"Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, 409-3898 Yamanashi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Ishiura","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medicine, The University of Tokyo, 113-8655 Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shoji","family":"Tsuji","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medicine, The University of Tokyo, 113-8655 Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshihisa","family":"Takiyama","sequence":"additional","affiliation":[{"name":"Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, 409-3898 Yamanashi, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2018,8,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1055\/s-0034-1386767","article-title":"Hereditary spastic paraplegia: Clinical principles and genetic advances","volume":"34","author":"Fink","year":"2014","journal-title":"Semin. 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Suppl."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1136\/jmedgenet-2012-101212","article-title":"A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy","volume":"49","author":"Shimazaki","year":"2012","journal-title":"J. Med. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1024","DOI":"10.1136\/jnnp-2013-306981","article-title":"Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation","volume":"85","author":"Shimazaki","year":"2014","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1038\/jhg.2013.139","article-title":"Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses","volume":"59","author":"Ishiura","year":"2014","journal-title":"J. Hum. 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Neurol."}],"container-title":["Brain Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2076-3425\/8\/8\/153\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T15:18:25Z","timestamp":1760195905000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2076-3425\/8\/8\/153"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,8,13]]},"references-count":8,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2018,8]]}},"alternative-id":["brainsci8080153"],"URL":"https:\/\/doi.org\/10.3390\/brainsci8080153","relation":{},"ISSN":["2076-3425"],"issn-type":[{"value":"2076-3425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,8,13]]}}}