{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T18:22:41Z","timestamp":1789150961148,"version":"build-2803163510"},"reference-count":12,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,12,13]],"date-time":"2021-12-13T00:00:00Z","timestamp":1639353600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP21ek0109486"],"award-info":[{"award-number":["JP21ek0109486"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP21ek0109549"],"award-info":[{"award-number":["JP21ek0109549"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP21cm0106503"],"award-info":[{"award-number":["JP21cm0106503"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["JP21ek0109493"],"award-info":[{"award-number":["JP21ek0109493"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Hereditary spastic paraplegia (HSP) is a genetically and clinically heterogeneous genetic disease characterized by progressive weakness and spasticity predominantly affecting the lower limbs. Complex HSP is a subset of HSP presenting with additional neuronal and\/or non\u2010neuronal phenotypes. Here, we identify a homozygous\n                    <jats:italic>ABHD16A<\/jats:italic>\n                    nonsense variant in two affected children in a Chilean family. Very recently, two groups reported patients with biallelic\n                    <jats:italic>ABHD16A<\/jats:italic>\n                    whose clinical presentation was similar to that of our patients. By reviewing the clinical features of these reports and our patients,\n                    <jats:italic>ABHD16A<\/jats:italic>\n                    \u2010related HSP can be characterized by early childhood onset, developmental delay, intellectual disability, speech disturbance, extrapyramidal signs, psychiatric features, no sphincter control, skeletal involvement, thin corpus callosum, and high\u2010intensity signals in white matter on T2\u2010weighted brain MRI. In addition, our affected siblings showed a characteristic face, sleep disturbance, and nodular and hyperpigmented skin lesions, which have not previously been reported in this condition.\n                  <\/jats:p>","DOI":"10.1111\/cge.14097","type":"journal-article","created":{"date-parts":[[2021,12,6]],"date-time":"2021-12-06T00:09:13Z","timestamp":1638749353000},"page":"359-363","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["A homozygous\n                    <scp>\n                      <i>ABHD16A<\/i>\n                    <\/scp>\n                    variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face"],"prefix":"10.1111","volume":"101","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5322-2983","authenticated-orcid":false,"given":"Noriko","family":"Miyake","sequence":"first","affiliation":[{"name":"Department of Human Genetics Research Institute, National Center for Global Health and Medicine  Tokyo Japan"},{"name":"Department of Human Genetics Graduate School of Medicine, Yokohama City University  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1331-9470","authenticated-orcid":false,"given":"Sebasti\u00e1n","family":"Silva","sequence":"additional","affiliation":[{"name":"Child Neurology Service Hospital de Puerto Montt  Puerto Montt Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00f3nica","family":"Troncoso","sequence":"additional","affiliation":[{"name":"Child Neurology Service Hospital San Borja Arriar\u00e1n, Universidad de Chile  Santiago Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuhiko","family":"Okamoto","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Osaka Women's and Children's Hospital  Izumi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiki","family":"Andachi","sequence":"additional","affiliation":[{"name":"Support Center National Institute of Genetics, Research Organization of Information and Systems  Mishima Japan"},{"name":"Department of Genetics The Graduate University for Advanced Studies, SOKENDAI  Mishima Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuhiro","family":"Kato","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Showa University School of Medicine  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chisato","family":"Iwabuchi","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Research Institute, National Center for Global Health and Medicine  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mio","family":"Hirose","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Research Institute, National Center for Global Health and Medicine  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsushi","family":"Fujita","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Graduate School of Medicine, Yokohama City University  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4540-5277","authenticated-orcid":false,"given":"Yuri","family":"Uchiyama","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Graduate School of Medicine, Yokohama City University  Yokohama Japan"},{"name":"Department of Rare Disease Genomics Yokohama City University Hospital  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Graduate School of Medicine, Yokohama City University  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,12,13]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci11030403"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(08)70258-8"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2021.720201"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.09.005"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-019-0643-z"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/379522"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-017-8558-0"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2013.139"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1967.00470190005001"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2016.12"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/nchembio.1721"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"}],"container-title":["Clinical 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