{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T14:16:50Z","timestamp":1790691410665,"version":"4.1.0"},"reference-count":6,"publisher":"Scientific Scholar","license":[{"start":{"date-parts":[[2021,1,29]],"date-time":"2021-01-29T00:00:00Z","timestamp":1611878400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["ruralneuropractice.com"],"crossmark-restriction":true},"short-container-title":["JNRP"],"abstract":"<jats:title>Abstract<\/jats:title>\n<jats:p>The association of spinal muscular atrophy (SMA) with progressive myoclonic epilepsy, also known as \u201cSMA plus,\u201d is a unique syndrome linked to non-survival motor neuron (non-SMN) genes. The disease starts in childhood with progressive weakness and atrophy of muscles; myoclonic epilepsy develops during later childhood, after the onset of motor symptoms. In this report, we describe a case of SMN gene unrelated SMA and myoclonic epilepsy, supported by electrophysiological and neuropathological evidences.<\/jats:p>","DOI":"10.1055\/s-0040-1721543","type":"journal-article","created":{"date-parts":[[2021,1,29]],"date-time":"2021-01-29T23:36:23Z","timestamp":1611963383000},"page":"210-212","update-policy":"https:\/\/doi.org\/10.25259\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy: A Rare Association"],"prefix":"10.25259","volume":"12","author":[{"given":"Divya M.","family":"Radhakrishnan","sequence":"first","affiliation":[{"name":"Department of Neurology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India"},{"name":"Department of Neurology, All India Institute of Medical Sciences, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ritu","family":"Shree","sequence":"additional","affiliation":[{"name":"Department of Neurology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India"},{"name":"Department of Neurology, Post Graduate Institute of Medical Education & Research, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Govind","family":"Madhaw","sequence":"additional","affiliation":[{"name":"Department of Neurology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajat","family":"Manchanda","sequence":"additional","affiliation":[{"name":"Department of Neurology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Mahadevan","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niraj","family":"Kumar","sequence":"additional","affiliation":[{"name":"Department of Neurology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10894","published-online":{"date-parts":[[2021,1,29]]},"reference":[{"key":"10.1055\/s-0040-1721543\/ref-1","first-page":"1027","article-title":"Diseases of the motor unit","author":"Menkes","year":"2000","edition":"6th edition"},{"issue":"1","key":"10.1055\/s-0040-1721543\/ref-2","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/j.ajhg.2012.05.001","article-title":"Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1","volume":"91","author":"Zhou","year":"2012","journal-title":"Am J Hum Genet"},{"issue":"2","key":"10.1055\/s-0040-1721543\/ref-3","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/S0960-8966(02)00211-0","article-title":"93rd ENMC International Workshop: non-5q-spinal muscular atrophies (SMA) - clinical picture (6-8 April 2001, Naarden, The Netherlands)","volume":"13","author":"Zerres","year":"2003","journal-title":"Neuromuscul Disord"},{"key":"10.1055\/s-0040-1721543\/ref-4","first-page":"116","article-title":"Hereditary myoclonus and progressive muscular atrophy: a new syndrome","volume":"103","author":"Jankovic","year":"1978","journal-title":"Trans Am Neurol Assoc"},{"issue":"1","key":"10.1055\/s-0040-1721543\/ref-5","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1186\/s13023-018-0845-z","article-title":"Acid ceramidase deficiency: Farber disease and SMA-PME","volume":"13","author":"Yu","year":"2018","journal-title":"Orphanet J Rare Dis"},{"key":"10.1055\/s-0040-1721543\/ref-6","doi-asserted-by":"crossref","first-page":"155","DOI":"10.2147\/IMCRJ.S202046","article-title":"A novel case report of spinal muscular atrophy with progressive myoclonic epilepsy from Iran","volume":"12","author":"Shervin Badv","year":"2019","journal-title":"Int Med Case Rep J"}],"container-title":["Journal of Neurosciences in Rural Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/ruralneuropractice.com\/spinal-muscular-atrophy-and-progressive-myoclonic-epilepsy-a-rare-association\/","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/ruralneuropractice.com\/spinal-muscular-atrophy-and-progressive-myoclonic-epilepsy-a-rare-association\/","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,5]],"date-time":"2023-08-05T04:40:33Z","timestamp":1691210433000},"score":1,"resource":{"primary":{"URL":"https:\/\/ruralneuropractice.com\/spinal-muscular-atrophy-and-progressive-myoclonic-epilepsy-a-rare-association\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,29]]},"references-count":6,"alternative-id":["10.1055\/s-0040-1721543"],"URL":"https:\/\/doi.org\/10.1055\/s-0040-1721543","relation":{},"ISSN":["0976-3147"],"issn-type":[{"value":"0976-3147","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,1,29]]},"article-number":"210"}}