{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:31:05Z","timestamp":1777804265930,"version":"3.51.4"},"reference-count":41,"publisher":"SAGE Publications","issue":"10","license":[{"start":{"date-parts":[[2018,6,8]],"date-time":"2018-06-08T00:00:00Z","timestamp":1528416000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2018,9]]},"abstract":"<jats:p>Leukodystrophies and genetic leukoencephalopathies are a heterogeneous group of heritable disorders that affect the glial-axonal unit. As more patients with unsolved leukodystrophies and genetic leukoencephalopathies undergo next generation sequencing, causative mutations in genes leading to central hypomyelination are being identified. Two such individuals presented with arthrogryposis multiplex congenita, congenital hypomyelinating neuropathy, and central hypomyelination with early respiratory failure. Whole exome sequencing identified biallelic mutations in the CNTNAP1 gene: homozygous c.1163G&gt;C (p.Arg388Pro) and compound heterozygous c.967T&gt;C (p.Cys323Arg) and c.319C&gt;T (p.Arg107*). Sural nerve and quadriceps muscle biopsies demonstrated progressive, severe onion bulb and axonal pathology. By ultrastructural evaluation, septate axoglial paranodal junctions were absent from nodes of Ranvier. Serial brain magnetic resonance images revealed hypomyelination, progressive atrophy, and reduced diffusion in the globus pallidus in both patients. These 2 families illustrate severe progressive peripheral demyelinating neuropathy due to the absence of septate paranodal junctions and central hypomyelination with neurodegeneration in CNTNAP1-associated arthrogryposis multiplex congenita.<\/jats:p>","DOI":"10.1177\/0883073818776157","type":"journal-article","created":{"date-parts":[[2018,6,8]],"date-time":"2018-06-08T07:45:15Z","timestamp":1528443915000},"page":"642-650","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":15,"title":["Absence of Axoglial Paranodal Junctions in a Child With\n                    <i>CNTNAP1<\/i>\n                    Mutations, Hypomyelination, and Arthrogryposis"],"prefix":"10.1177","volume":"33","author":[{"given":"Alexander","family":"Conant","sequence":"first","affiliation":[{"name":"Department of Neurology, Children\u2019s National Health System, Washington, DC, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julian","family":"Curiel","sequence":"additional","affiliation":[{"name":"Department of Neurology, Children\u2019s Hospital of Philadelphia, Philadelphia, PA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amy","family":"Pizzino","sequence":"additional","affiliation":[{"name":"Department of Neurology, Children\u2019s National Health System, Washington, DC, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Parisa","family":"Sabetrasekh","sequence":"additional","affiliation":[{"name":"Department of Neurology, Children\u2019s National Health System, Washington, DC, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer","family":"Murphy","sequence":"additional","affiliation":[{"name":"National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miriam","family":"Bloom","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hospitalist Medicine, Children\u2019s National Health System, Washington, DC, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah H.","family":"Evans","sequence":"additional","affiliation":[{"name":"Department of Physical Medicine and Rehabilitation, Children\u2019s National Health System, Washington, DC, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guy","family":"Helman","sequence":"additional","affiliation":[{"name":"Department of Neurology, Children\u2019s National Health System, Washington, DC, USA"},{"name":"Center for Genetic Medicine, Children\u2019s National Health System, Washington DC, USA"},{"name":"Murdoch Children's Research Institute, Parkville, Melbourne, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryan J.","family":"Taft","sequence":"additional","affiliation":[{"name":"Illumina, San Diego, CA, USA"},{"name":"Institute for Molecular Bioscience, University of Queensland, St. Lucia, Queensland, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cas","family":"Simons","sequence":"additional","affiliation":[{"name":"Murdoch Children's Research Institute, Parkville, Melbourne, Australia"},{"name":"Institute for Molecular Bioscience, University of Queensland, St. Lucia, Queensland, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew T.","family":"Whitehead","sequence":"additional","affiliation":[{"name":"Neuroradiology Department, Children\u2019s National Health System, Washington, DC, USA"},{"name":"George Washington University School of Medicine, Washington, DC, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven A.","family":"Moore","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Iowa Carver College of Medicine and Paul D. 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