{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T12:36:58Z","timestamp":1779367018327,"version":"3.53.0"},"reference-count":20,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2004,10,13]],"date-time":"2004-10-13T00:00:00Z","timestamp":1097625600000},"content-version":"vor","delay-in-days":4091,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[1993,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A patient with anosmia and night blindness had repeated clinical and electrophysiological examinations during a 21\u2010year period. Within the first 11 years, he experienced two subacute episodes of numbness with weakness and ataxia. Over the 10 ensuing years, no additional functional disability appeared. We looked retrospectively for a correlation between repeated manual muscle scoring and different nerve conduction parameters. Further studies were done in order to estimate reinnervation in proximal and distal muscles and to assess autonomic functions. A direct relationship was found between the magnitude of muscle weakness and the amplitude of compound muscle action potentials, whereas nerve conduction velocities were inhomogeneously reduced but almost unchanged over time. Parasympathetic tests were normal but sympathetic skin responses were absent. As estimated by macro\u2010EMG and turns\u2010amplitude analysis the compensatory reinnervation was very high. We conclude that, in Refsum's disease, recurrent segmental demyelination of a significant portion of the motor units can occur in parallel with exacerbations of weakness, and that a considerable degree of progressive motor and sudoromotor axonal loss can be found although there is an apparent long\u2010term clinical stabilization of the neuropathy. \u00a9 1993 John Wiley &amp; Sons, Inc.<\/jats:p>","DOI":"10.1002\/mus.880160809","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T08:14:30Z","timestamp":1104567270000},"page":"857-863","source":"Crossref","is-referenced-by-count":14,"title":["Quantitative EMG analysis and longitudinal nerve conduction studies in a Refsum's disease patient"],"prefix":"10.1002","volume":"16","author":[{"given":"Thierry","family":"Kuntzer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fran\u00e7ois","family":"Ochsner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Schmid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franco","family":"Regli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,10,13]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(82)90760-7"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880140802"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880131002"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880130214"},{"key":"e_1_2_1_6_2","first-page":"143","volume-title":"Computer\u2010Aided Electromyography and Expert Systems","author":"Gila\u00ef AN","year":"1989"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1159\/000115788"},{"key":"e_1_2_1_8_2","first-page":"478","volume-title":"Electrodiagnosis in Diseases of Nerve and Muscle: Principles and Practice","author":"Kimura J","year":"1989"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.32.6.592"},{"key":"e_1_2_1_10_2","volume-title":"Aids to the Investigation of Peripheral Nerve Injuries","author":"Medical Research Council","year":"1943"},{"key":"e_1_2_1_11_2","first-page":"1680","volume-title":"Peripheral Neuropathy","author":"Refsum S","year":"1984"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.47.5.536"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1990.00530060069021"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(87)90209-7"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.43.6.475"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/0013-4694(83)90035-4"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.45.10.870"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.125.1.75"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4471-3526-5"},{"key":"e_1_2_1_20_2","first-page":"177","volume-title":"Clinical Electromyography","author":"Thomas PK","year":"1987"},{"key":"e_1_2_1_21_2","first-page":"15","article-title":"Sur un cas d'h\u00e9r\u00e9dopathie ataxique polyn\u00e9vritique: maladie de Refsum","volume":"104","author":"Veltema AN","year":"1961","journal-title":"Rev Neurol"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.880160809","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.880160809","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T23:43:49Z","timestamp":1698191029000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.880160809"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,8]]},"references-count":20,"journal-issue":{"issue":"8","published-print":{"date-parts":[[1993,8]]}},"alternative-id":["10.1002\/mus.880160809"],"URL":"https:\/\/doi.org\/10.1002\/mus.880160809","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,8]]}}}