{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T15:46:40Z","timestamp":1772034400711,"version":"3.50.1"},"reference-count":9,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2022,12,26]],"date-time":"2022-12-26T00:00:00Z","timestamp":1672012800000},"content-version":"vor","delay-in-days":25,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    CLCN2\u2010related leukoencephalopathy (CC2L OMIM#: 615651) is a recently identified rare disorder. It is caused by autosomal recessive mutations in the\n                    <jats:italic>CLCN2<\/jats:italic>\n                    gene and leads to the dysfunction of its encoded CLC\u20102 chloride channel protein with characteristic brain MRI features of leukoencephalopathy. We report the first Tunisian patient with clinical features of ClCN\u20102\u2010related leukoencephalopathy. A 54\u2010year\u2010old female with a family history of leukemia, male infertility, motor disability, and headaches who initially presented with a tension\u2010type headache and normal physical examination. At the follow\u2010up, she developed mild gait ataxia and psycho\u2010cognitive disturbances. A previously reported homozygous NM_004366.6(CLCN2):c.1709G\u2009&gt;\u2009A (p.Trp570Ter) stop gained mutation was identified. This report expands the knowledge related to CC2L and highlights the clinical features in affected individuals of African descent.\n                  <\/jats:p>","DOI":"10.1002\/ccr3.6737","type":"journal-article","created":{"date-parts":[[2022,12,26]],"date-time":"2022-12-26T23:55:46Z","timestamp":1672098946000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A Tunisian patient with\n                    <scp>CLCN2<\/scp>\n                    \u2010related leukoencephalopathy"],"prefix":"10.1002","volume":"10","author":[{"given":"Dina","family":"Ben Mohamed","sequence":"first","affiliation":[{"name":"Molecular Neurobiology and Neuropathology Department National Institute Mongi Ben Hamida of Neurology  La Rabta Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zacharia","family":"Saied","sequence":"additional","affiliation":[{"name":"Molecular Neurobiology and Neuropathology Department National Institute Mongi Ben Hamida of Neurology  La Rabta Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samia","family":"Ben Sassi","sequence":"additional","affiliation":[{"name":"Molecular Neurobiology and Neuropathology Department National Institute Mongi Ben Hamida of Neurology  La Rabta Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariem","family":"Ben Said","sequence":"additional","affiliation":[{"name":"Laboratoire Proc\u00e9d\u00e9s de Criblage Mol\u00e9culaire et Cellulaire Centre de Biotechnologie de Sfax  Sfax Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatma","family":"Nabli","sequence":"additional","affiliation":[{"name":"Molecular Neurobiology and Neuropathology Department National Institute Mongi Ben Hamida of Neurology  La Rabta Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Afef","family":"Achouri","sequence":"additional","affiliation":[{"name":"Molecular Neurobiology and Neuropathology Department National Institute Mongi Ben Hamida of Neurology  La Rabta Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cyrine","family":"Jeridi","sequence":"additional","affiliation":[{"name":"Molecular Neurobiology and Neuropathology Department National Institute Mongi Ben Hamida of Neurology  La Rabta Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saber","family":"Masmoudi","sequence":"additional","affiliation":[{"name":"Laboratoire Proc\u00e9d\u00e9s de Criblage Mol\u00e9culaire et Cellulaire Centre de Biotechnologie de Sfax  Sfax Tunisia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5641-5748","authenticated-orcid":false,"given":"Rim","family":"Amouri","sequence":"additional","affiliation":[{"name":"Molecular Neurobiology and Neuropathology Department National Institute Mongi Ben Hamida of Neurology  La Rabta 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