{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T02:15:12Z","timestamp":1778120112804,"version":"3.51.4"},"reference-count":9,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,3,14]],"date-time":"2017-03-14T00:00:00Z","timestamp":1489449600000},"content-version":"vor","delay-in-days":13,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Italian Ministry of Health","award":["RF-2011-02351165"],"award-info":[{"award-number":["RF-2011-02351165"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Charcot\u2010Marie\u2010Tooth disease type <jats:styled-content style=\"fixed-case\">4D<\/jats:styled-content> (<jats:styled-content style=\"fixed-case\">CMT4D<\/jats:styled-content>), also known as hereditary motor and sensory neuropathy Lom type (<jats:styled-content style=\"fixed-case\">HMSNL<\/jats:styled-content>), is an autosomal recessive, early onset, severe demyelinating neuropathy with hearing loss, caused by N\u2010Myc downstream\u2010regulated gene 1 (<jats:italic><jats:styled-content style=\"fixed-case\">NDRG1<\/jats:styled-content><\/jats:italic>) mutations. <jats:styled-content style=\"fixed-case\">CMT4D<\/jats:styled-content> is rare with only three known mutations, one of which (p.<jats:styled-content style=\"fixed-case\">Arg148Ter<\/jats:styled-content>) is found in patients of Romani ancestry and accounts for the vast majority of cases. We report a 38\u2010year\u2010old Italian female with motor development delay, progressive neuropathy, and sensorineural deafness. Magnetic resonance imaging showed slight atrophy of cerebellum, medulla oblongata, and upper cervical spinal cord. She had a novel homozygous <jats:italic><jats:styled-content style=\"fixed-case\">NDRG1<\/jats:styled-content><\/jats:italic> frameshift mutation (c.<jats:styled-content style=\"fixed-case\">739delC<\/jats:styled-content>; p.<jats:styled-content style=\"fixed-case\">His247ThrfsTer74<\/jats:styled-content>). The identification of this <jats:italic><jats:styled-content style=\"fixed-case\">NDRG1<\/jats:styled-content><\/jats:italic> mutation confirms that <jats:styled-content style=\"fixed-case\">CMT4D<\/jats:styled-content> is not a private Romani disease and should be considered in the differential diagnosis of recessive demyelinating <jats:styled-content style=\"fixed-case\">CMT<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/jns.12201","type":"journal-article","created":{"date-parts":[[2016,12,17]],"date-time":"2016-12-17T15:17:53Z","timestamp":1481987873000},"page":"47-50","source":"Crossref","is-referenced-by-count":9,"title":["A novel <i><scp>NDRG1<\/scp><\/i> mutation in a non\u2010Romani patient with <scp>CMT4D<\/scp>\/<scp>HMSN<\/scp>\u2010Lom"],"prefix":"10.1111","volume":"22","author":[{"given":"Giuseppe","family":"Piscosquito","sequence":"first","affiliation":[{"name":"Unit of Rare Neurological Diseases of Adulthood, Department of Clinical Neurosciences IRCCS Foundation, \u201cC. Besta\u201d Neurological Institute  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefania","family":"Magri","sequence":"additional","affiliation":[{"name":"Unit of Genetics of Neurodegenerative and Metabolic Disease, Department of Diagnostics and Applied Technology IRCCS Foundation, \u201cC. Besta\u201d Neurological Institute  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Saveri","sequence":"additional","affiliation":[{"name":"Unit of Rare Neurological Diseases of Adulthood, Department of Clinical Neurosciences IRCCS Foundation, \u201cC. Besta\u201d Neurological Institute  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Micaela","family":"Milani","sequence":"additional","affiliation":[{"name":"Unit of Genetics of Neurodegenerative and Metabolic Disease, Department of Diagnostics and Applied Technology IRCCS Foundation, \u201cC. Besta\u201d Neurological Institute  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Ciano","sequence":"additional","affiliation":[{"name":"Neurophysiopathology and Epilepsy Centre, Department of Diagnostics and Applied Technology IRCCS Foundation, \u201cC. Besta\u201d Neurological Institute  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Farina","sequence":"additional","affiliation":[{"name":"Unit of Neuroradiology, Department of Diagnostics and Applied Technology IRCCS Foundation, \u201cC. Besta\u201d Neurological Institute  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franco","family":"Taroni","sequence":"additional","affiliation":[{"name":"Unit of Genetics of Neurodegenerative and Metabolic Disease, Department of Diagnostics and Applied Technology IRCCS Foundation, \u201cC. Besta\u201d Neurological Institute  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Davide","family":"Pareyson","sequence":"additional","affiliation":[{"name":"Unit of Rare Neurological Diseases of Adulthood, Department of Clinical Neurosciences IRCCS Foundation, \u201cC. Besta\u201d Neurological Institute  Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,3,14]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(98)00011-X"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2004.07.014"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2006.10.002"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10240"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1096-214"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/121.3.399"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/302978"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1529-8027.2011.00350.x"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2013.155"}],"container-title":["Journal of the Peripheral Nervous System"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjns.12201","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jns.12201","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T11:51:47Z","timestamp":1696161107000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jns.12201"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,3]]}},"alternative-id":["10.1111\/jns.12201"],"URL":"https:\/\/doi.org\/10.1111\/jns.12201","archive":["Portico"],"relation":{},"ISSN":["1085-9489","1529-8027"],"issn-type":[{"value":"1085-9489","type":"print"},{"value":"1529-8027","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3]]}}}