{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:21:33Z","timestamp":1777803693803,"version":"3.51.4"},"reference-count":12,"publisher":"SAGE Publications","issue":"7","license":[{"start":{"date-parts":[[2014,9,11]],"date-time":"2014-09-11T00:00:00Z","timestamp":1410393600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2015,6]]},"abstract":"<jats:p>Giant axonal neuropathy is an autosomal recessive disorder of childhood with distinct morphological features. An 8-year-old boy presented with progressive walking difficulty and recurrent falls. Evaluation showed frizzy hair, characteristic facies, sensory motor neuropathy, and ataxia. Magnetic resonance imaging (MRI) showed bilateral symmetric white matter signal changes in the cerebellum and periventricular regions along with involvement of the posterior limb of the internal capsule. Sural nerve biopsy demonstrated giant axons with neurofilament accumulation. The clinicopathologic manifestations of giant axonal neuropathy are discussed along with the clinical and histologic differential diagnoses.<\/jats:p>","DOI":"10.1177\/0883073814547721","type":"journal-article","created":{"date-parts":[[2014,9,11]],"date-time":"2014-09-11T20:33:29Z","timestamp":1410467609000},"page":"912-915","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":10,"title":["Giant Axonal Neuropathy"],"prefix":"10.1177","volume":"30","author":[{"given":"Kadambari","family":"Vijaykumar","sequence":"first","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Parayil Sankaran","family":"Bindu","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arun B.","family":"Taly","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anita","family":"Mahadevan","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rose Dawn","family":"Bharath","sequence":"additional","affiliation":[{"name":"Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Narayanappa","family":"Gayathri","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Madhu","family":"Nagappa","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanjib","family":"Sinha","sequence":"additional","affiliation":[{"name":"Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2014,9,11]]},"reference":[{"key":"bibr1-0883073814547721","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2003.035162"},{"key":"bibr2-0883073814547721","doi-asserted-by":"publisher","DOI":"10.1038\/81701"},{"key":"bibr3-0883073814547721","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1542\/peds.49.6.894","volume":"49","author":"Berg BO","year":"1972","journal-title":"Pediatrics"},{"key":"bibr4-0883073814547721","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2008.05.006"},{"key":"bibr5-0883073814547721","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000177"},{"key":"bibr6-0883073814547721","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.06.007"},{"key":"bibr7-0883073814547721","first-page":"312","volume":"31","author":"Carpenter S","year":"1974","journal-title":"Ann Neurol"},{"key":"bibr8-0883073814547721","first-page":"1647","volume-title":"Diseases of Peripheral Nerve. 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