{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T18:43:38Z","timestamp":1760985818385,"version":"3.40.5"},"reference-count":7,"publisher":"Wiley","license":[{"start":{"date-parts":[[2019,7,1]],"date-time":"2019-07-01T00:00:00Z","timestamp":1561939200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Neurological Medicine"],"published-print":{"date-parts":[[2019,7,1]]},"abstract":"<jats:p><jats:italic>Background<\/jats:italic>. Autosomal recessive hereditary spastic paraplegias (HSP) are a rare group of hereditary neurodegenerative disorders characterized by spasticity with or without other symptoms.<jats:italic> SPG11 <\/jats:italic>gene is the most common cause of autosomal recessive HSP. We report a case of autosomal recessive spastic paraplegia type 76 due to heterozygous variants of<jats:italic> CAPN1<\/jats:italic> in an Argentinean subject.<jats:italic> Case Presentation<\/jats:italic>. A 38-year-old Argentinean female presented with progressive gait problems and instability of 15-year duration. Oculomotor abnormalities, ataxia, bradykinesia, cervical dystonia, and lower limb pyramidal signs were observed. Brain MRI was unremarkable. Whole-exome sequencing analysis identified two heterozygous variants in<jats:italic> CAPN1<\/jats:italic>.<jats:italic> Conclusions<\/jats:italic>. Clinicians should screen for<jats:italic> CAPN1<\/jats:italic> mutation in a young female patient without significant family history with a spastic paraplegia syndrome associated with other symptoms.<\/jats:p>","DOI":"10.1155\/2019\/7615605","type":"journal-article","created":{"date-parts":[[2019,7,1]],"date-time":"2019-07-01T19:42:23Z","timestamp":1562010143000},"page":"1-5","source":"Crossref","is-referenced-by-count":3,"title":["<i>CAPN1<\/i> Variants as Cause of Hereditary Spastic Paraplegia Type 76"],"prefix":"10.1155","volume":"2019","author":[{"given":"Jesus Eduardo","family":"Garcia-Berlanga","sequence":"first","affiliation":[{"name":"Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Monterrey, Nuevo Leon, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariana","family":"Moscovich","sequence":"additional","affiliation":[{"name":"Department of Neurology, Christian-Albrechts University, Kiel, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isaac Jair","family":"Palacios","sequence":"additional","affiliation":[{"name":"Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Monterrey, Nuevo Leon, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alejandro","family":"Banegas-Lagos","sequence":"additional","affiliation":[{"name":"Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Monterrey, Nuevo Leon, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3765-6778","authenticated-orcid":true,"given":"Augusto","family":"Rojas-Martinez","sequence":"additional","affiliation":[{"name":"Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Monterrey, Nuevo Leon, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8003-0610","authenticated-orcid":true,"given":"Daniel","family":"Martinez-Ramirez","sequence":"additional","affiliation":[{"name":"Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Monterrey, Nuevo Leon, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1016\/B978-0-444-64076-5.00041-7","volume":"148","year":"2018","journal-title":"Handbook of Clinical Neurology"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2012.03.025"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1136\/practneurol-2017-001842"},{"issue":"1","key":"4","first-page":"e218","volume":"4","year":"2018","journal-title":"Neurology: Genetics"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.05.009"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1053-1"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1016\/j.tins.2016.01.007"}],"container-title":["Case Reports in Neurological Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crinm\/2019\/7615605.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crinm\/2019\/7615605.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crinm\/2019\/7615605.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,7,1]],"date-time":"2019-07-01T19:42:29Z","timestamp":1562010149000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/crinm\/2019\/7615605\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7,1]]},"references-count":7,"alternative-id":["7615605","7615605"],"URL":"https:\/\/doi.org\/10.1155\/2019\/7615605","relation":{},"ISSN":["2090-6668","2090-6676"],"issn-type":[{"type":"print","value":"2090-6668"},{"type":"electronic","value":"2090-6676"}],"subject":[],"published":{"date-parts":[[2019,7,1]]}}}