{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T12:41:19Z","timestamp":1787056879553,"version":"build-2736575974"},"reference-count":11,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2012]]},"abstract":"\n \n Proximal spinal muscular atrophy (SMA) or type 1 SMA is a fatal autosomal recessive disorder usually caused by homozygous deletion of exons 7 and 8 in the survivor motor neuron (SMN) gene. Additional deletion of the neuronal apotosis inhibitory protein (NAIP) gene exacerbates the clinical severity. Isolated exon 8 deletion has been reported in a single case series of SMA types 2 and 3 and never with SMA type 1. While extraocular muscles are typically spared, there are a few case reports documenting associated external ophthalmoplegia. Optic atrophy is a hitherto unreported association of SMA. We report a 10-month-old male infant with SMA type 1 with optic atrophy due to isolated deletion of exon 8 of the SMN gene with intact exon 7 and NAIP gene.<\/jats:p>\n <\/jats:sec>","DOI":"10.4103\/0022-3859.105451","type":"journal-article","created":{"date-parts":[[2013,1,3]],"date-time":"2013-01-03T06:14:27Z","timestamp":1357193667000},"page":"294-295","source":"Crossref","is-referenced-by-count":8,"title":["Isolated exon 8 deletion in type 1 spinal muscular atrophy with bilateral optic atrophy"],"prefix":"10.4103","volume":"58","author":[{"given":"D","family":"Maiti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Bhattacharya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Yadav","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-12-20240205","doi-asserted-by":"crossref","first-page":"667","DOI":"10.1007\/s00415-005-0714-2","article-title":"Study of survival of motor neuron and neuronal apoptosis inhibitory protein gene deletions in SMA patients","volume":"252","author":"Kesari","year":"2005","journal-title":"J Neurol"},{"key":"R2-12-20240205","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1002\/ana.410440522","article-title":"Spinal muscular atrophy due to an isolated deletion of exon 8 of the telomeric survival motor neuron gene","volume":"5","author":"Gambardella","year":"1998","journal-title":"Ann Neurol"},{"key":"R3-12-20240205","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1111\/j.1471-4159.2012.07689.x","article-title":"Spinal muscular atrophy pathogenic mutations impair the axonogenic properties of axonal-survival of motor neuron","volume":"121","author":"Locatelli","year":"2012","journal-title":"J Neurochem"},{"key":"R4-12-20240205","first-page":"320","article-title":"Congenital total external ophthalmoplegia associated with infantile spinal muscular atrophy. Fine structure of extraocular muscle","volume":"15","author":"Pachter","year":"1976","journal-title":"Invest Ophthalmol"},{"key":"R5-12-20240205","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1001\/archneur.1969.00480090041005","article-title":"Progressive Ophthalmoplegia in Kugelberg-Welander Disease: Report of a Case","volume":"20","author":"Aberfeld","year":"1969","journal-title":"Arch Neurol"},{"key":"R6-12-20240205","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1001\/archneur.1968.00480040028002","article-title":"Progressive Ophthalmoplegia: Report of Cases","volume":"19","author":"Rosenberg","year":"1968","journal-title":"Arch Neurol"},{"key":"R7-12-20240205","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1001\/archneur.1981.00510090088014","article-title":"Distal spinal muscular atrophy and ophthalmoparesis: A case with selective type 2 fiber hypotrophy","volume":"38","author":"Dubrovsky","year":"1981","journal-title":"Arch Neurol"},{"key":"R8-12-20240205","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/0140-6736(90)91803-I","article-title":"Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14: The French Spinal Muscular Atrophy Investigators","volume":"336","author":"Melki","year":"1990","journal-title":"Lancet"},{"key":"R9-12-20240205","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and characterisation of a spinal muscular atrophy determining gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"key":"R10-12-20240205","doi-asserted-by":"crossref","first-page":"255","DOI":"10.4103\/0028-3886.27147","article-title":"Correlation between deletion patterns of SMN and NAIP genes and the clinical features of spinal muscular atrophy in Indian patients","volume":"54","author":"Dastur","year":"2006","journal-title":"Neurol India"},{"key":"R11-12-20240205","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1186\/1750-1172-6-71","article-title":"Spinal muscular atrophy","volume":"6","author":"D'Amico","year":"2011","journal-title":"Orphanet J Rare Dis"}],"container-title":["Journal of Postgraduate Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/00005257-201258040-00012","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T19:00:16Z","timestamp":1786647616000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/00005257-201258040-00012"}},"subtitle":["Unusual genetic mutation leading to unusual manifestation?"],"short-title":[],"issued":{"date-parts":[[2012]]},"references-count":11,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2012]]}},"URL":"https:\/\/doi.org\/10.4103\/0022-3859.105451","relation":{},"ISSN":["0022-3859"],"issn-type":[{"value":"0022-3859","type":"print"}],"subject":[],"published":{"date-parts":[[2012]]}}}