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In addition to the classical clinical phenotype, additional features can occur.<\/jats:p><\/jats:sec>Methods<\/jats:title>We studied a wide range of additional features in a cohort of 49 genetically confirmed CMT<\/jats:styled-content> patients and performed a systematic literature revision.<\/jats:p><\/jats:sec>Results<\/jats:title>Patients harbored a PMP<\/jats:styled-content>22<\/jats:italic> gene alteration (n<\/jats:italic>\u00a0=\u00a028) or a mutation in MPZ<\/jats:styled-content><\/jats:italic> (n<\/jats:italic>\u00a0=\u00a011), GJB<\/jats:styled-content>1<\/jats:italic> (n<\/jats:italic>\u00a0=\u00a04), LITAF<\/jats:styled-content><\/jats:italic> (n<\/jats:italic>\u00a0=\u00a02), MFN<\/jats:styled-content>2<\/jats:italic> (n<\/jats:italic>\u00a0=\u00a02), INF<\/jats:styled-content>2<\/jats:italic> (n<\/jats:italic>\u00a0=\u00a01), NEFL<\/jats:styled-content><\/jats:italic> (n<\/jats:italic>\u00a0=\u00a01). We identified four novel mutations (3 MPZ<\/jats:styled-content>,<\/jats:italic> 1 GJB<\/jats:styled-content>1<\/jats:italic>). A total of 88% presented at least one additional feature. In MPZ<\/jats:styled-content><\/jats:italic> patients, we detected hypertrophic nerve roots in 3\/4 cases that underwent spinal MRI<\/jats:styled-content>, and pupillary abnormalities in 27%. In our cohort, restless legs syndrome (RLS<\/jats:styled-content>) was present in 18%. We describe for the first time RLS<\/jats:styled-content> associated with LITAF<\/jats:styled-content><\/jats:italic> or MFN<\/jats:styled-content>2<\/jats:italic> and predominant upper limb involvement with LITAF<\/jats:styled-content><\/jats:italic>. Cold\u2010induced hand cramps occurred in 10% (PMP<\/jats:styled-content>22<\/jats:italic>, MPZ<\/jats:styled-content><\/jats:italic>, MFN<\/jats:styled-content>2<\/jats:italic>), and autonomous nervous system involvement in 18% (PMP<\/jats:styled-content>22<\/jats:italic>, MPZ<\/jats:styled-content>, LITAF<\/jats:styled-content><\/jats:italic>, MFN<\/jats:styled-content>2<\/jats:italic>). RLS<\/jats:styled-content> and respiratory insufficiency were mostly associated with severe neuropathy, and pupillary abnormalities with mild to moderate neuropathy.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>In CMT<\/jats:styled-content> patients, additional features occur frequently. Some of them might be helpful in orienting genetic diagnosis. Our data broaden the clinical spectrum and genotype\u2013phenotype associations with CMT<\/jats:styled-content>.<\/jats:p><\/jats:sec>","DOI":"10.1002\/brb3.451","type":"journal-article","created":{"date-parts":[[2016,3,5]],"date-time":"2016-03-05T16:46:38Z","timestamp":1457196398000},"source":"Crossref","is-referenced-by-count":32,"title":["Underestimated associated features in CMT<\/scp> neuropathies: clinical indicators for the causative gene?"],"prefix":"10.1002","volume":"6","author":[{"given":"Friederike","family":"Werheid","sequence":"first","affiliation":[{"name":"Department of Neurology University Hospital RWTH Aachen Aachen Germany"},{"name":"Institute of Neuropathology University Hospital RWTH Aachen Aachen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hamid","family":"Azzedine","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology University Hospital RWTH Aachen Aachen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Zwerenz","sequence":"additional","affiliation":[{"name":"Department of Neurology University Hospital RWTH Aachen Aachen Germany"},{"name":"Institute of Neuropathology University Hospital RWTH Aachen Aachen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmet","family":"Bozkurt","sequence":"additional","affiliation":[{"name":"Department of Plastic and Reconstructive Surgery Hand Surgery\u2010Burn Center University Hospital RWTH Aachen Aachen Germany"},{"name":"Department of Plastic & Aesthetic, Reconstructive & Hand Surgery Center for Reconstructive Microsurgery and Peripheral Nerve Surgery (ZEMPEN) Agaplesion Markus Hospital Frankfurt am Main Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcus J.","family":"Moeller","sequence":"additional","affiliation":[{"name":"Section\u00a0Immunology and Nephrology Department of Internal Medicine University Hospital RWTH Aachen Aachen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lilian","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Neurology University Hospital RWTH Aachen Aachen Germany"},{"name":"Institute of Neuropathology University Hospital RWTH Aachen Aachen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Mull","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology University Hospital RWTH Aachen Aachen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"H\u00e4usler","sequence":"additional","affiliation":[{"name":"Division of Neuropediatrics and Social Pediatrics Department of Pediatrics University Hospital RWTH Aachen Aachen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00f6rg B.","family":"Schulz","sequence":"additional","affiliation":[{"name":"Department of Neurology University Hospital RWTH Aachen Aachen Germany"},{"name":"JARA \u2013 Translational Brain Medicine Aachen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joachim","family":"Weis","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology University Hospital RWTH Aachen Aachen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristl G.","family":"Claeys","sequence":"additional","affiliation":[{"name":"Department of Neurology University Hospital RWTH Aachen Aachen Germany"},{"name":"Institute of Neuropathology University Hospital RWTH Aachen Aachen Germany"},{"name":"Department of Neurology University Hospitals Leuven and University of Leuven (KU Leuven) Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,3,4]]},"reference":[{"key":"e_1_2_8_2_1","unstructured":"Ananth U. 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