{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T05:34:57Z","timestamp":1761197697730,"version":"3.40.5"},"reference-count":14,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2019,7,27]],"date-time":"2019-07-27T00:00:00Z","timestamp":1564185600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Homozygous mutations in <jats:italic>MAG<\/jats:italic>, encoding the myelin\u2010associated glycoprotein, a transmembrane component of the myelin sheath, have been associated with SPG 75 recessive spastic paraplegia. Here, we report the first patient with two compound heterozygous novel <jats:italic>MAG<\/jats:italic> mutations (p.A151V and p.S373R) and early developmental delay with a progressive complex phenotype characterized by spastic paraplegia, peripheral sensorimotor neuropathy, intellectual disability, and sensorial dysfunctions with severe optic atrophy and hearing involvement. Brain imaging showed progressive global cerebellar atrophy. We propose that complex hereditary spastic paraplegia, with axonal and demyelinating polyneuropathy, sensorial impairment and intellectual disability might suggest <jats:italic>MAG<\/jats:italic> mutations.<\/jats:p>","DOI":"10.1002\/acn3.50860","type":"journal-article","created":{"date-parts":[[2019,7,27]],"date-time":"2019-07-27T08:39:54Z","timestamp":1564216794000},"page":"1572-1577","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Hereditary spastic paraplegia and prominent sensorial involvement: think <i>MAG<\/i> mutations!"],"prefix":"10.1002","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8180-4857","authenticated-orcid":false,"given":"Agathe","family":"Roubertie","sequence":"first","affiliation":[{"name":"D\u00e9partement de Neurop\u00e9diatrie CHU Gui de Chauliac Montpellier France"},{"name":"Institut des Neurosciences de Montpellier INSERM U1051, Universit\u00e9 de Montpellier France"},{"name":"Centre of Reference for Genetic Sensory Diseases CHU Gui de Chauliac Montpellier France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Majida","family":"Charif","sequence":"additional","affiliation":[{"name":"MitoLab, UMR CNRS 6015, INSERM 1083 Universit\u00e9 d'Angers 49933 Angers France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre","family":"Meyer","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Neurop\u00e9diatrie CHU Gui de Chauliac Montpellier France"},{"name":"PhyMedExp Universit\u00e9 de Montpellier, INSERM, CNRS Montpellier France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gael","family":"Manes","sequence":"additional","affiliation":[{"name":"Institut des Neurosciences de Montpellier INSERM U1051, Universit\u00e9 de Montpellier 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