{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:18:13Z","timestamp":1791296293837,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,6,25]],"date-time":"2003-06-25T00:00:00Z","timestamp":1056499200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"La Fondation des Jumelles Coud\u00e9es"},{"DOI":"10.13039\/501100000024","name":"Canadian Institute of Health Research","doi-asserted-by":"crossref","award":["#15459, G.A.R."],"award-info":[{"award-number":["#15459, G.A.R."]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[2003,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum (OMIM 218000) is an autosomal recessive disease of early onset characterized by a delay in developmental milestones, a severe sensory\u2010motor polyneuropathy with areflexia, a variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment. Although this disorder has rarely been reported worldwide, it has a high prevalence in the Saguenay\u2010Lac\u2010St\u2010Jean region of the province of Quebec (Canada) predominantly because of a founder effect. The gene defect responsible for this disorder recently has been identified, and it is a protein\u2010truncating mutation in the <jats:italic>SLC12A6<\/jats:italic> gene, which codes for a cotransporter protein known as KCC3. Herein, we provide the first extensive review of this disorder, covering epidemiological, clinical, and molecular genetic studies. Ann Neurol 2002;54:9\u201318<\/jats:p>","DOI":"10.1002\/ana.77777","type":"journal-article","created":{"date-parts":[[2003,6,27]],"date-time":"2003-06-27T10:01:20Z","timestamp":1056708080000},"page":"9-18","source":"Crossref","is-referenced-by-count":69,"title":["Hereditary motor and sensory neuropathy with agenesis of the corpus callosum"],"prefix":"10.1002","volume":"54","author":[{"given":"Nicolas","family":"Dupr\u00e9","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heidi C.","family":"Howard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean","family":"Mathieu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George","family":"Karpati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Vanasse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Pierre","family":"Bouchard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stirling","family":"Carpenter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guy A.","family":"Rouleau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,6,25]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1002"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00218260"},{"key":"e_1_2_7_4_2","first-page":"400","article-title":"Familial agenesis of the corpus callosum with sensorimotor neuronopathy: genetic and epidemiological studies of over 170 patients","volume":"6","author":"Andermann E","year":"1979","journal-title":"Can J Neurol Sci"},{"key":"e_1_2_7_5_2","first-page":"76","volume-title":"Histoire d'un g\u00e9n\u00f4me: population, soci\u00e9t\u00e9 et g\u00e9n\u00e9tique dans l'est du Qu\u00e9bec","author":"Gauvreau D","year":"1991"},{"key":"e_1_2_7_6_2","first-page":"789","article-title":"Ag\u00e9n\u00e9sie du corps calleux (12 cas)","volume":"7","author":"Leblanc G","year":"1966","journal-title":"Neurochirurgie"},{"key":"e_1_2_7_7_2","first-page":"242","article-title":"Familial agenesis of the corpus callosum with anterior horn cell disease. A syndrome of mental retardation, areflexia and paraplegia","volume":"97","author":"Andermann E","year":"1972","journal-title":"Trans Am Neurol Assoc"},{"key":"e_1_2_7_8_2","series-title":"Handbook of clinical neurology","first-page":"100","author":"Andermann E","year":"1981"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1017\/S0317167100030298"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.3928\/0090-4481-19730701-04"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1991.00530240079027"},{"key":"e_1_2_7_12_2","first-page":"156","article-title":"Psychopathology in institutionalized mentally retarded adults","author":"Linaker O","year":"1990","journal-title":"Br J Psychiat"},{"key":"e_1_2_7_13_2","first-page":"1094","volume-title":"Peripheral neuropathy","author":"Dyck P","year":"1993"},{"key":"e_1_2_7_14_2","first-page":"28","article-title":"The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q","volume":"58","author":"Casaubon L","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200815"},{"key":"e_1_2_7_16_2","first-page":"200","article-title":"The Andermann syndrome. Progressive neuropathy, mental retardation with agenesis of the corpus callosum","volume":"13","author":"Battistella P","year":"1987","journal-title":"Ital J Pediatrics"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1071524"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1159\/000117419"},{"key":"e_1_2_7_19_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.23.16355"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.15.10661"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.1999.277.6.C1210"},{"key":"e_1_2_7_22_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.251388798"},{"key":"e_1_2_7_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0306-4522(00)00567-4"},{"key":"e_1_2_7_24_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1460-9568.2002.02419.x"},{"key":"e_1_2_7_25_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.57.2.235"},{"key":"e_1_2_7_26_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4613-0487-6_4"},{"key":"e_1_2_7_27_2","first-page":"130","article-title":"beta, beta\u2032\u2010iminodiproprionitrile and hexacarbon neuropathies. Evidence for an axonal influence","volume":"45","author":"Griffin J","year":"1981","journal-title":"Lab Invest"},{"key":"e_1_2_7_28_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00689507"},{"key":"e_1_2_7_29_2","first-page":"91","volume-title":"Peripheral neuropathy in childhood","author":"Ouvrier R","year":"1990"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.77777","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.77777","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T16:55:49Z","timestamp":1697475349000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.77777"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,6,25]]},"references-count":28,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2003,7]]}},"alternative-id":["10.1002\/ana.77777"],"URL":"https:\/\/doi.org\/10.1002\/ana.77777","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,6,25]]}}}