{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T06:01:37Z","timestamp":1790834497473,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,2,8]],"date-time":"2015-02-08T00:00:00Z","timestamp":1423353600000},"content-version":"vor","delay-in-days":69,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Nervous and Mental Disorders and Research Committee for Charcot-Marie-Tooth Disease"},{"name":"Neuropathy, Ataxic Disease and Applying Health and Technology of the Japanese Ministry of Health, Welfare and Labour"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2014,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>To identify novel mutations causing hereditary motor and sensory neuropathy (<jats:styled-content style=\"fixed-case\">HMSN<\/jats:styled-content>) with pyramidal signs, a variant of Charcot\u2010Marie\u2010Tooth disease (<jats:styled-content style=\"fixed-case\">CMT<\/jats:styled-content>), we screened 28 <jats:styled-content style=\"fixed-case\">CMT<\/jats:styled-content> and related genes in four members of an affected Japanese family. Clinical features included weakness of distal lower limb muscles, foot deformity, and mild sensory loss, then late onset of progressive spasticity. Electrophysiological studies revealed widespread neuropathy. Electron microscopic analysis showed abnormal mitochondria and mitochondrial accumulation in the neurons and Schwann cells. Brain magnetic resonance imaging (<jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content>) revealed an abnormally thin corpus callosum. In all four, microarrays detected a novel heterozygous missense mutation c.<jats:styled-content style=\"fixed-case\">1166A<\/jats:styled-content>&gt;G (p.<jats:styled-content style=\"fixed-case\">Y389C<\/jats:styled-content>) in the gene encoding the light\u2010chain neurofilament protein (<jats:styled-content style=\"fixed-case\">NEFL<\/jats:styled-content>), indicating that <jats:italic><jats:styled-content style=\"fixed-case\">NEFL<\/jats:styled-content><\/jats:italic> mutations can result in a <jats:styled-content style=\"fixed-case\">HMSN<\/jats:styled-content> with pyramidal signs phenotype.<\/jats:p>","DOI":"10.1111\/jns.12102","type":"journal-article","created":{"date-parts":[[2015,1,13]],"date-time":"2015-01-13T12:22:38Z","timestamp":1421151758000},"page":"311-316","source":"Crossref","is-referenced-by-count":28,"title":["Neurofilament light mutation causes hereditary motor and sensory neuropathy with pyramidal 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