{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T10:51:20Z","timestamp":1785754280148,"version":"3.56.0"},"reference-count":27,"publisher":"Scientific Scholar","license":[{"start":{"date-parts":[[2021,9,20]],"date-time":"2021-09-20T00:00:00Z","timestamp":1632096000000},"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>\n<jats:bold>Background<\/jats:bold>\u2003Spinocerebellar ataxias (SCAs) are a diverse group of progressive neurodegenerative disorders. Until now, more than 20 genes have been implicated to be associated with this phenotype and <jats:italic>TGM6<\/jats:italic> is one of these genes, associated with spinocerebellar ataxia-35 (SCA-35). The majority of disease-causing variants in the <jats:italic>TGM6<\/jats:italic> gene predominantly have been reported from China and Taiwan and the association with Parkinson's disease (PD) have also been reported recently.<\/jats:p>\n<jats:p>\n<jats:bold>Methods<\/jats:bold>\u2003We report the first Indian case with SCA-35 in a 16-year-old-boy with atypical age of onset at 9 years, prominent extrapyramidal features, intellectual disability, and a novel missense mutation in the <jats:italic>TGM6<\/jats:italic> gene. We also reviewed and collated all previously published cases with pathogenic TGM6 variants.<\/jats:p>\n<jats:p>\n<jats:bold>Results<\/jats:bold>\u2003Including the index case, 54 cases were identified from 10 relevant articles in literature and 48 cases had adequate clinical details to be included in the pooled analysis. Around two-thirds of reported cases had SCA-35 phenotype, with cerebellar atrophy. Onset in the majority of cases was the fourth decade of life onwards. A proportion of SCA-35 cases also had spasmodic torticollis, impaired proprioception, extrapyramidal features, and myoclonic jerks. The patients with PD had often early-onset milder symptoms, slower progression, and favorable response to levodopa\/carbidopa. One patient each presented with episodic ataxia and dystonic tremor of the upper limb. Most of the cases had missense mutations, without any definite hotspot or genotype\u2013phenotype correlation.<\/jats:p>\n<jats:p>\n<jats:bold>Conclusions<\/jats:bold>\u2003TGM6 mutation should be suspected in patients with SCA like presentation, especially when it is accompanied by extrapyramidal features, spasmodic torticollis, impaired proprioception, or myoclonus.<\/jats:p>","DOI":"10.1055\/s-0041-1734006","type":"journal-article","created":{"date-parts":[[2021,9,20]],"date-time":"2021-09-20T23:25:10Z","timestamp":1632180310000},"page":"656-665","update-policy":"https:\/\/doi.org\/10.25259\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Clinical Spectrum of TGM6-Related Movement Disorders: A New Report with a Pooled Analysis of 48 Patients"],"prefix":"10.25259","volume":"12","author":[{"given":"Indar Kumar","family":"Sharawat","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Pediatric Neurology Division, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Prateek Kumar","family":"Panda","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Pediatric Neurology Division, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niladri Sekhar","family":"Bhunia","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lesa","family":"Dawman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10894","published-online":{"date-parts":[[2021,9,20]]},"reference":[{"issue":"2","key":"10.1055\/s-0041-1734006\/ref-1","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1007\/s00415-018-9076-4","article-title":"Spinocerebellar ataxia: an update","volume":"266","author":"Sullivan","year":"2019","journal-title":"J Neurol"},{"issue":"1","key":"10.1055\/s-0041-1734006\/ref-2","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1038\/s41572-019-0074-3","article-title":"Spinocerebellar ataxia","volume":"5","author":"Klockgether","year":"2019","journal-title":"Nat Rev Dis Primers"},{"key":"10.1055\/s-0041-1734006\/ref-3","doi-asserted-by":"crossref","first-page":"3510","DOI":"10.1093\/brain\/awq323","article-title":"TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome 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