{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:28:11Z","timestamp":1790832491632,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,10,10]],"date-time":"2019-10-10T00:00:00Z","timestamp":1570665600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004162","name":"Meath Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004162","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in apoptosis\u2010inducing factor mitochondrion\u2010associated\u20101 (<jats:italic>AIFM1<\/jats:italic>) cause X\u2010linked peripheral neuropathy (Cowchock syndrome, CMT4X); however, more recently a cerebellar presentation has been described. We describe a large Irish family with seven affected males. They presented with a variable age of onset, 18\u2009months to 39\u2009years of age. All developed variably present sensorineural deafness, peripheral neuropathy, cerebellar ataxia, and pyramidal involvement. In addition, three had colour vision deficiency. Scale for the assessment and rating of ataxia ranged 2 to 23\/40, while Charcot\u2010Marie\u2010Tooth neuropathy score 2 varied between 7 and 13\/36. All individuals had normal cognitive assessment. Neurophysiology demonstrated length\u2010dependent large\u2010fibre sensorimotor axonal neuropathy, with particular involvement of superficial radial sensory responses. Brain imaging, performed in four, revealed varying extent of cerebellar atrophy, and white matter changes in one. Optical coherence tomography was abnormal in one, who had unrelated eye pathology. Four obligate female carriers were assessed clinically, two of them neurophysiologically; all were unaffected. Whole genome sequencing demonstrated a previously reported hemizygous <jats:italic>AIFM1<\/jats:italic> mutation. Analysis for mutations in other genes associated with colour deficiency was negative. <jats:italic>AIFM1<\/jats:italic>\u2010associated phenotype in this family demonstrated significant variability. To our knowledge, this is the first report of <jats:italic>AIFM1<\/jats:italic>\u2010associated colour blindness. Superficial radial nerve was particularly affected neurophysiologically, which could represent a phenotypic marker towards this specific genetic diagnosis.<\/jats:p>","DOI":"10.1111\/jns.12348","type":"journal-article","created":{"date-parts":[[2019,9,16]],"date-time":"2019-09-16T05:24:50Z","timestamp":1568611490000},"page":"348-353","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Clinical spectrum of <i>AIFM1<\/i>\u2010associated disease in an Irish family, from mild neuropathy to severe cerebellar ataxia with colour blindness"],"prefix":"10.1111","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8944-4921","authenticated-orcid":false,"given":"Petya","family":"Bogdanova\u2010Mihaylova","sequence":"first","affiliation":[{"name":"Department of Neurology Tallaght University Hospital  Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael 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A.","family":"Walsh","sequence":"additional","affiliation":[{"name":"Department of Neurology Tallaght University Hospital  Dublin Ireland"},{"name":"Academic Unit of Neurology Trinity College Dublin  Dublin Ireland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sin\u00e9ad M.","family":"Murphy","sequence":"additional","affiliation":[{"name":"Department of Neurology Tallaght University Hospital  Dublin Ireland"},{"name":"Academic Unit of Neurology Trinity College Dublin  Dublin 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