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For the first time, peripheral neuropathy is reported here as a novel phenotype associated with CRYAB.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Whole\u2010exome sequencing was performed in two unrelated families with genetically unsolved axonal Charcot\u2013Marie\u2013Tooth disease (CMT2), assessing clinical, neurophysiological and radiological features.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The pathogenic <jats:italic>CRYAB<\/jats:italic> variant c.358A&gt;G;p.Arg120Gly was segregated in all affected patients from two unrelated families. The disease presented as late onset CMT2 (onset over 40\u2009years) with distal sensory and motor impairment and congenital cataracts. Muscle involvement was probably associated in cases showing mild axial and diaphragmatic weakness. In all cases, nerve conduction studies demonstrated the presence of an axonal sensorimotor neuropathy along with chronic neurogenic changes on needle examination.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>In cases with late onset autosomal dominant CMT2 and congenital cataracts, it is recommended that <jats:italic>CRYAB<\/jats:italic> is considered for genetic testing. The identification of <jats:italic>CRYAB<\/jats:italic> mutations causing CMT2 further supports a continuous spectrum of expressivity, from myopathic to neuropathic and mixed forms, of a growing number of genes involved in protein degradation and chaperone\u2010assisted autophagy.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.16063","type":"journal-article","created":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T08:12:05Z","timestamp":1695975125000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Mutations in alpha\u2010B\u2010crystallin cause autosomal dominant axonal Charcot\u2013Marie\u2013Tooth disease with congenital cataracts"],"prefix":"10.1111","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2208-5311","authenticated-orcid":false,"given":"Andrea","family":"Cortese","sequence":"first","affiliation":[{"name":"Department of Neuromuscolar Diseases UCL Queen Square Institute of Neurology  London UK"},{"name":"Department of Brain and Behavioral Sciences University of Pavia  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5622-0550","authenticated-orcid":false,"given":"Riccardo","family":"Curr\u00f2","sequence":"additional","affiliation":[{"name":"Department of Neuromuscolar Diseases UCL Queen Square Institute of Neurology  London UK"},{"name":"Department of Brain and Behavioral Sciences University of Pavia  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-5300-0083","authenticated-orcid":false,"given":"Riccardo","family":"Ronco","sequence":"additional","affiliation":[{"name":"Department of Neuromuscolar Diseases UCL Queen Square Institute of Neurology  London UK"},{"name":"Department of Brain and Behavioral Sciences University of Pavia  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julian","family":"Blake","sequence":"additional","affiliation":[{"name":"Department of Neuromuscolar Diseases UCL Queen Square Institute of Neurology  London UK"},{"name":"Department of Clinical Neurophysiology Norfolk and Norwich University Hospital  Norwich UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4648-2896","authenticated-orcid":false,"given":"Alex M.","family":"Rossor","sequence":"additional","affiliation":[{"name":"Department of Neuromuscolar Diseases UCL Queen Square Institute of Neurology  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Bugiardini","sequence":"additional","affiliation":[{"name":"Department of Neuromuscolar Diseases UCL Queen Square Institute of Neurology  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matilde","family":"Laur\u00e0","sequence":"additional","affiliation":[{"name":"Department of Neuromuscolar Diseases UCL Queen Square Institute of Neurology  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tom","family":"Warner","sequence":"additional","affiliation":[{"name":"Department of Neuromuscolar Diseases UCL Queen Square Institute of Neurology  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tarek","family":"Yousry","sequence":"additional","affiliation":[{"name":"Department of Neuromuscolar Diseases UCL Queen Square Institute of Neurology  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roy","family":"Poh","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit National Hospital for Neurology and Neurosurgery  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Polke","sequence":"additional","affiliation":[{"name":"Neurogenetics Unit National Hospital for Neurology and Neurosurgery  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriana","family":"Rebelo","sequence":"additional","affiliation":[{"name":"Dr John T. 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