{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:18:25Z","timestamp":1791296305804,"version":"4.1.0"},"reference-count":14,"publisher":"Cambridge University Press (CUP)","issue":"2","license":[{"start":{"date-parts":[[2015,9,18]],"date-time":"2015-09-18T00:00:00Z","timestamp":1442534400000},"content-version":"unspecified","delay-in-days":11462,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Can. j. neurol. sci."],"published-print":{"date-parts":[[1984,5]]},"abstract":"<jats:title>ABSTRACT:<\/jats:title><jats:p>Andermann et al. described in 1972 an autosomal recessive inherited syndrome which associates agenesis of the corpus callosum, mental deficiency, and a peripheral motor deficit. We had the opportunity to study in detail 15 patients affected by this syndrome. As in the cases previously reported, the families of these children all originated from Charlevoix County and the Saguenay-Lac St-Jean area in the Province of Quebec.<\/jats:p><jats:p>Clinically, these patients have a characteristic facies and moderate mental retardation associated with a progressive motor neuropathy leading to loss of ambulation by adolescence and progressive scoliosis. In 13 of these 15 patients, neuroradiological investigation has shown either total or partial agenesis of the corpus callosum. In every patient in whom these tests were done, sensory nerve action potentials were absent and motor nerve conduction velocities reduced. We also found neurogenic abnormalities both on EMG and neuromuscular biopsies. These abnormalities are similar to those described in Friedreich\u2019s ataxia and in hereditary motor and sensory neuropathy type II, although in our patients the motor deficit is much more severe than in these diseases.<\/jats:p><jats:p>The pathogenesis of the peripheral nervous system involvement is still unknown since there have so far been no autopsy studies of this syndrome.<\/jats:p>","DOI":"10.1017\/s0317167100045509","type":"journal-article","created":{"date-parts":[[2016,7,28]],"date-time":"2016-07-28T11:35:42Z","timestamp":1469705742000},"page":"257-261","source":"Crossref","is-referenced-by-count":57,"title":["The Andermann Syndrome: Agenesis of the Corpus Callosum Associated with Mental Retardation and Progressive Sensorimotor Neuronopathy"],"prefix":"10.1017","volume":"11","author":[{"given":"Albert","family":"Larbrisseau","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Vanasse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Brochu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ga\u00e9tan","family":"Jasmin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2015,9,18]]},"reference":[{"key":"S0317167100045509_ref158","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1980.00500560074011"},{"key":"S0317167100045509_ref163","first-page":"347","article-title":"Apport de l\u2019\u00e9lectromyographie au diagnostic differentiel de l\u2019hypotonie infantile","volume":"III","author":"Vanasse","year":"1982","journal-title":"Union M\u00e9d. Cana"},{"key":"S0317167100045509_ref162","doi-asserted-by":"publisher","DOI":"10.1017\/S0317167100025518"},{"key":"S0317167100045509_ref159","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(71)90067-0"},{"key":"S0317167100045509_ref150","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(80)80460-4"},{"key":"S0317167100045509_ref151","first-page":"242","article-title":"Familial agenesis of the corpus callosum with anterior horn cell disease: a syndrome of mental retardation, areflexia and paraparesis","volume":"97","author":"Andermann","year":"1972","journal-title":"Trans. Amer. Neurol. Ass"},{"key":"S0317167100045509_ref152","first-page":"232","article-title":"Familial agenesis of the corpus callosum with spinal cord involvement: a new autosomal recessive syndrome originating in Charlevoix County","volume":"XIII","author":"Andermann","year":"1977","journal-title":"In: New syndromes, edited by Daniel Bergsine and Brian Lowry. Birth Defects, original article series"},{"key":"S0317167100045509_ref153","author":"Andermann","year":"1978"},{"key":"S0317167100045509_ref161","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410060408"},{"key":"S0317167100045509_ref155","first-page":"825","volume-title":"In: Peripheral Neuropathy","volume":"11","author":"Dyck","year":"1975"},{"key":"S0317167100045509_ref157","first-page":"113","article-title":"Ag\u00e9n\u00e9sie du corps calleux et atteinte de la corne ant\u00e9rieure de la moelle, une affection rare","volume":"37","author":"Giroud","year":"1982","journal-title":"P\u00e9diatrie"},{"key":"S0317167100045509_ref154","first-page":"100","volume-title":"In: Handbook of Clinical Neurology. Vol. 42: Neurogenetic Directory Part I. N.C. Myriam Teopoulos","author":"Andermann","year":"1981"},{"key":"S0317167100045509_ref156","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.26.12.1152"},{"key":"S0317167100045509_ref160","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1964.00460200094009"}],"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\/S0317167100045509","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,23]],"date-time":"2019-05-23T20:55:51Z","timestamp":1558644951000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S0317167100045509\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,5]]},"references-count":14,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1984,5]]}},"alternative-id":["S0317167100045509"],"URL":"https:\/\/doi.org\/10.1017\/s0317167100045509","relation":{},"ISSN":["0317-1671","2057-0155"],"issn-type":[{"value":"0317-1671","type":"print"},{"value":"2057-0155","type":"electronic"}],"subject":[],"published":{"date-parts":[[1984,5]]}}}