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At birth, affected puppies exhibited stereotypical positioning of limbs, scoliosis, arthrogryposis, pulmonary hypoplasia, and respiratory failure. Regional hypoplasia in the central nervous system was apparent grossly, most strikingly as underdeveloped cerebellum and spinal cord. Histopathologic abnormalities included swollen axons and spheroids in brainstem and spinal cord tracts; reduced cerebellar foliation, patchy loss of Purkinje cells, multifocal thinning of the external granular cell layer, and loss of neurons in the deep cerebellar nuclei; spheroids and loss of myelinated axons in spinal roots and peripheral nerves; increased myocyte apoptosis in skeletal muscle; and fibrofatty connective tissue proliferation around joints. Breeding studies demonstrated that the canine disorder is a fully penetrant, simple autosomal recessive trait. The disorder demonstrated a type and distribution of lesions homologous to that of human infantile neuroaxonal dystrophy (INAD), most commonly caused by mutations of phospholipase A2 group VI gene (<jats:italic>PLA2G6<\/jats:italic>), but alleles of informative markers flanking the canine<jats:italic>PLA2G6<\/jats:italic>locus did not associate with the canine disorder. Thus, fetal\u2010onset neuroaxonal dystrophy in dogs, a species with well\u2010developed genome mapping resources, provides a unique opportunity for additional disease gene discovery and understanding of this pathology. J. Comp. Neurol. 518:3771\u20133784, 2010. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/cne.22423","type":"journal-article","created":{"date-parts":[[2010,5,25]],"date-time":"2010-05-25T10:32:51Z","timestamp":1274783571000},"page":"3771-3784","source":"Crossref","is-referenced-by-count":14,"title":["Inherited neuroaxonal dystrophy in dogs causing lethal, fetal\u2010onset motor system dysfunction and cerebellar hypoplasia"],"prefix":"10.1002","volume":"518","author":[{"given":"John C.","family":"Fyfe","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raba' A.","family":"Al\u2010Tamimi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rudy J.","family":"Castellani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana","family":"Rosenstein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel","family":"Goldowitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paula S.","family":"Henthorn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,7,13]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00003086-198706000-00006"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1248\/cpb.40.1236"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200598"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0387-7604(93)90080-R"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1053\/ejpn.2000.0294"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcpa.2005.10.002"},{"key":"e_1_2_6_8_1","doi-asserted-by":"crossref","first-page":"407","DOI":"10.2460\/ajvr.1981.42.03.407","article-title":"Histochemical differentiation of fiber types in neonatal canine skeletal muscle","volume":"42","author":"Braund KG","year":"1981","journal-title":"Am J Vet Res"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI200112935"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI118895"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1177\/104063879300500414"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2008.01.005"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807308710"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrn1788"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-198305000-00006"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10024-002-0042-9"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290110"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.neuro.31.061307.090711"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1939-1676.2007.tb03002.x"},{"key":"e_1_2_6_20_1","first-page":"25","article-title":"Arthrogryposis multiplex congenita with posterior column degeneration and peripheral neuropathy: a case report","volume":"12","author":"Folkerth RD","year":"1993","journal-title":"Clin Neuropathol"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000327094.67726.28"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02057909"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1053\/ejpn.1999.0177"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1052430"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250112"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1097\/01202412-199707000-00002"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature04724"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1751-0813.1991.tb03162.x"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/cne.20453"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00335-003-2280-1"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280124"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1292\/jvms.70.965"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1939-1676.2007.tb01953.x"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00684817"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00695608"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.229202. 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