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Symptoms usually start in the first to second decade and include distal muscle weakness and wasting, sensory disturbances and foot deformities. The most frequent cause is a duplication of <jats:italic>PMP22<\/jats:italic> whilst point mutations in <jats:italic>PMP22<\/jats:italic> and other genes are rare causes. Recently, <jats:italic>FBLN5<\/jats:italic> mutations have been reported in CMT1 families.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Individuals with <jats:italic>FBLN5<\/jats:italic>\u2010associated CMT1 were compiled from clinical and research genetic testing laboratories. Clinical data were extracted from medical records or obtained during patients\u2019 visits at our centres or primary care sites.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Nineteen CMT1 families containing 38 carriers of three different <jats:italic>FBLN5<\/jats:italic> missense variants were identified and a mutational hotspot at c.1117C&gt;T (p.Arg373Cys) was confirmed. Compared to patients with the common <jats:italic>PMP22<\/jats:italic> duplication, individuals with <jats:italic>FBLN5<\/jats:italic> variants had a later age of diagnosis (third to fifth decade) and less severely reduced motor median nerve conduction velocities (around 31\u00a0m\/s). The most frequent clinical presentations were prominent sensory disturbances and painful sensations, often as initial symptom and pronounced in the upper limbs, contrasting with rather mild to moderate motor deficits.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our study confirms the relevance of <jats:italic>FBLN5<\/jats:italic> mutations in CMT1. It is proposed to include <jats:italic>FBLN5<\/jats:italic> in the genetic work\u2010up of individuals suspected with CMT1, particularly when diagnosis is established beyond the first and second decade and comparably moderate motor deficits contrast with early and marked sensory involvement. <jats:italic>FBLN5<\/jats:italic>\u2010associated CMT1 has a recognizable clinical phenotype and should be referred to as CMT1H according to the current classification scheme.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.14463","type":"journal-article","created":{"date-parts":[[2020,8,5]],"date-time":"2020-08-05T20:22:11Z","timestamp":1596658931000},"page":"2568-2574","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Demyelinating Charcot\u2013Marie\u2013Tooth neuropathy associated with <i>FBLN5<\/i> mutations"],"prefix":"10.1111","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0572-7239","authenticated-orcid":false,"given":"D.","family":"Safka Brozkova","sequence":"first","affiliation":[{"name":"DNA Laboratory Department of Paediatric Neurology 2nd Faculty of Medicine Charles University in Prague and Motol University Hospital Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Stojkovic","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence des Maladies Neuromusculaires Nord\/Est\/Ile de France Institut de Myologie APHP G\u2010H Piti\u00e9\u2010Salp\u00eatri\u00e8re Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Haberlov\u00e1","sequence":"additional","affiliation":[{"name":"DNA Laboratory Department of Paediatric Neurology 2nd Faculty of Medicine Charles University in Prague and Motol University Hospital Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Mazanec","sequence":"additional","affiliation":[{"name":"Department of Neurology 2nd Faculty of Medicine Charles University in Prague and Motol University Hospital Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Windhager","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics and Trauma Surgery Medical University of Vienna Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Fernandes Rosenegger","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics and Trauma Surgery Medical University of Vienna Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Hacker","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics and Trauma Surgery Medical University of Vienna Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Z\u00fcchner","sequence":"additional","affiliation":[{"name":"Dr John T. 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