{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,23]],"date-time":"2025-09-23T13:45:36Z","timestamp":1758635136192},"reference-count":17,"publisher":"Cambridge University Press (CUP)","issue":"1","license":[{"start":{"date-parts":[[2015,9,18]],"date-time":"2015-09-18T00:00:00Z","timestamp":1442534400000},"content-version":"unspecified","delay-in-days":6438,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Can. j. neurol. sci."],"published-print":{"date-parts":[[1998,2]]},"abstract":"<jats:title>ABSTRACT:<\/jats:title><jats:sec id=\"S0317167100033503_abs1\"><jats:title>Background:<\/jats:title><jats:p>Machado-Joseph disease (MJD) is a dominantly inherited cerebellar ataxia associated with spasticity, ophthalmoplegia and dystonia. There has been no report of electrophysiological or histological alterations of the peripheral nervous system in patients with MJD.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167100033503_abs2\"><jats:title>Methods:<\/jats:title><jats:p>Four patients with MJD were identified by polymerase chain reaction. The peripheral nerves of these patients were subjected to electrophysiological testing and histological study. Correlation analyses were made between various clinical parameters and the electrophysiological and histological changes.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167100033503_abs3\"><jats:title>Results:<\/jats:title><jats:p>Electrophysiological studies demonstrated a marked reduction of sensory action potential, acute denervation changes on needle EMG, as well as mild decrease in the compound motor action potential. Light microscopy of the sural nerves revealed clear loss of myelinated fibers, and morphometry studies showed a loss of large myelinated fibers. Moreover, the severity of these pathological changes was found to be related to the CAG repeat length in the MJD gene.<\/jats:p><\/jats:sec><jats:sec id=\"S0317167100033503_abs4\"><jats:title>Conclusion:<\/jats:title><jats:p>Our findings indicated that the peripheral nervous system was frequently affected in patients with MJD. These findings were similar to those seen in Friedreich's ataxia, suggesting a loss of sensory and motor fibers probably following a lesion of the dorsal root ganglion and the anterior horns in the spinal cord. Furthermore, the number of CAG repeats seems to have an inverse relationship to the extent of pathological changes of the peripheral nerves.<\/jats:p><\/jats:sec>","DOI":"10.1017\/s0317167100033503","type":"journal-article","created":{"date-parts":[[2016,2,17]],"date-time":"2016-02-17T09:11:29Z","timestamp":1455700289000},"page":"59-63","source":"Crossref","is-referenced-by-count":7,"title":["Correlation of Peripheral Nerve Fiber Loss and Trinucleotide Repeats in Machado-Joseph Disease"],"prefix":"10.1017","volume":"25","author":[{"given":"Bing-wen","family":"Soong","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kon-ping","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2015,9,18]]},"reference":[{"key":"S0317167100033503_ref011","first-page":"435","article-title":"Polyneuropathy associated with acute monoblastic leukemia, a case report","volume":"58","author":"Lin","year":"1996","journal-title":"Chin Med J (Taipei)"},{"key":"S0317167100033503_ref006","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1994.1327"},{"key":"S0317167100033503_ref014","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880100604"},{"key":"S0317167100033503_ref003","first-page":"3","article-title":"Review of neuropathological findings in Machado-Joseph disease: clinico-pathological correlation","author":"Coutinho","year":"1991","journal-title":"Presented at the NIH: Research Initiatives on Machado-Joseph Disease, Bethesda"},{"key":"S0317167100033503_ref001","first-page":"1","article-title":"Clinical features and classification of inherited ataxias","volume":"61","author":"Harding","year":"1993","journal-title":"Adv Neurol"},{"key":"S0317167100033503_ref013","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1984.04050140073028"},{"key":"S0317167100033503_ref007","first-page":"120","article-title":"Machado-Joseph disease in pedigrees of Azorean descent is also linked to chromosome 14","volume":"55","author":"St George-Hyslop","year":"1994","journal-title":"Am J Hum Genet"},{"key":"S0317167100033503_ref015","first-page":"239","volume-title":"Spinocerebellar Degenerations","author":"Wadia","year":"1980"},{"key":"S0317167100033503_ref002","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410410407"},{"key":"S0317167100033503_ref004","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870070303"},{"key":"S0317167100033503_ref005","doi-asserted-by":"publisher","DOI":"10.1038\/ng0793-300"},{"key":"S0317167100033503_ref008","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.1.25"},{"key":"S0317167100033503_ref012","doi-asserted-by":"publisher","DOI":"10.1007\/BF00313649"},{"key":"S0317167100033503_ref016","first-page":"150","article-title":"Friedreich\u2019s ataxia selectively involves the large neurons of the dorsal root ganglion","volume":"6","author":"Inonue","year":"1979","journal-title":"Ann Neurol"},{"key":"S0317167100033503_ref010","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1986.tb03291.x"},{"key":"S0317167100033503_ref017","first-page":"119","article-title":"A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease","volume":"59","author":"DeStefano","year":"1996","journal-title":"Am J Hum Genet"},{"key":"S0317167100033503_ref009","doi-asserted-by":"publisher","DOI":"10.1038\/ng1194-221"}],"container-title":["Canadian Journal of Neurological Sciences \/ Journal Canadien des Sciences Neurologiques"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S0317167100033503","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,11]],"date-time":"2019-05-11T19:08:44Z","timestamp":1557601724000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S0317167100033503\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,2]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1998,2]]}},"alternative-id":["S0317167100033503"],"URL":"https:\/\/doi.org\/10.1017\/s0317167100033503","relation":{},"ISSN":["0317-1671","2057-0155"],"issn-type":[{"value":"0317-1671","type":"print"},{"value":"2057-0155","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998,2]]}}}