{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T21:29:16Z","timestamp":1790630956896,"version":"4.1.0"},"reference-count":44,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,11,1]],"date-time":"2017-11-01T00:00:00Z","timestamp":1509494400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/onlinelibrary.wiley.com\/journal\/10.1002\/(ISSN)2330-1619\/homepage\/mdc312551-sup-v0001.htm\">View Supplementary Video 1<\/jats:ext-link>\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Spinocerebellar ataxia type 12 (SCA12) is a rare form of an autosomal\u2010dominant ataxic disorder associated with an expansion of CAG repeat length. Here, we present a large case series of patients with SCA12 and describe a wide range of typical and rare symptoms.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Twenty\u2010one consecutive patients with genetically proven SCA12 underwent detailed neurological examination. We assessed clinical characteristics using validated rating scales for evaluating motor features in SCA. Nonmotor symptoms and quality of life were assessed using appropriate, validated scales. Correlations of CAG repeat length with both severity score and age of onset were explored.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The mean age of onset was 51 years, and most patients were descendants of a single, endogamous Indian community (Agarwal). Tremor was the most common initial presenting symptom (90%). Hand dystonia was present in 14 of 21 patients, and most patients in the cohort presented with gait disturbance. Neuropsychiatric manifestations were common coexisting features. The CAG repeat length was significantly correlated (\n                      <jats:italic>r<\/jats:italic>\n                      = \u22120.760;\n                      <jats:italic>P<\/jats:italic>\n                      = 0.0001) with early age of onset, but not with disease severity. Tremor affected the quality of life in 18 of 21 patients, because they had difficulty in handling liquids.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Tremor was the most common, nonataxic symptom at initial presentation in patients with SCA12. Proximal upper limb tremor, typically with high amplitude and low frequency, can raise a strong diagnostic suspicion. Associated hand dystonia was a common coexisting motor feature. Various nonmotor features were also observed in several cases which require therapeutic attention.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mdc3.12551","type":"journal-article","created":{"date-parts":[[2017,9,15]],"date-time":"2017-09-15T06:56:41Z","timestamp":1505458601000},"page":"39-46","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":40,"title":["Clinical Characterization of Genetically Diagnosed Cases of Spinocerebellar Ataxia Type 12 from India"],"prefix":"10.1002","volume":"5","author":[{"given":"Supriyo","family":"Choudhury","sequence":"first","affiliation":[{"name":"Department of Neurology Institute of Neurosciences Kolkata India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sayan","family":"Chatterjee","sequence":"additional","affiliation":[{"name":"Department of Neurology Institute of Neurosciences Kolkata India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koustav","family":"Chatterjee","sequence":"additional","affiliation":[{"name":"Department of Neurology Institute of Neurosciences Kolkata India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Banerjee","sequence":"additional","affiliation":[{"name":"Department of Neurology Institute of Neurosciences Kolkata India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Humby","sequence":"additional","affiliation":[{"name":"Institute of Neuroscience Newcastle University Newcastle upon Tyne United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Banashree","family":"Mondal","sequence":"additional","affiliation":[{"name":"Department of Neurology Institute of Neurosciences Kolkata India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sidharth S.","family":"Anand","sequence":"additional","affiliation":[{"name":"Department of Neurology Institute of Neurosciences Kolkata India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shantanu","family":"Shubham","sequence":"additional","affiliation":[{"name":"Department of Neurology Institute of Neurosciences Kolkata India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hrishikesh","family":"Kumar","sequence":"additional","affiliation":[{"name":"Department of Neurology Institute of Neurosciences Kolkata India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,11]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/70493"},{"key":"e_1_2_7_3_1","unstructured":"MargolisRL HolmesSE SrivastavaAK MukherjiMitali SinhaKK. Spinocerebellar ataxia type 12. 2004 Oct 1 [updated 2011 Nov 17]. In:AdamMP ArdingerHH PagonRA et al. editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington Seattle; 1993\u20132017."},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.3.299"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.58.11.1833"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200101)49:1<117::AID-ANA19>3.0.CO;2-G"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.3.419"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.61.5.727"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2003.028381"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10048"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1016205924504"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2005.04.009"},{"key":"e_1_2_7_13_1","first-page":"71","article-title":"Molecular genetics and its clinical application in the diagnosis of spinocerebellar ataxias [article in Chinese]","volume":"22","author":"Xie Q","year":"2005","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22835"},{"key":"e_1_2_7_15_1","first-page":"137","article-title":"Gene mutation and clinical characteristics of a Chinese Uygur family with spinocerebellar ataxia type 12 [article in Chinese]","volume":"28","author":"Li H","year":"2011","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1529-8817.2005.00173.x"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2002.004895"},{"key":"e_1_2_7_18_1","unstructured":"SinhaK.Spinocerebellar ataxia 12 (SCA12). A tremor dominant disease typically seen in India. In: Medicine Update 2005. Mumbai India: Association of Physicians of India; 2055:600\u2013602."},{"key":"e_1_2_7_19_1","first-page":"1897","volume-title":"Community and Public Culture: The Marwaris in Calcutta, c","author":"Hardgrove A","year":"2004"},{"key":"e_1_2_7_20_1","first-page":"248","article-title":"Clinical and molecular study of spinocerebellar ataxia","volume":"57","author":"Garg J","year":"2009","journal-title":"J Assoc Physicians India"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/1757-1626-2-7870"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.4103\/0972-2327.175435"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000115106.88813.5B"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02724013"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390051026"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.4103\/0972-2327.144005"},{"key":"e_1_2_7_27_1","first-page":"213","article-title":"Trinucleotide repeat spinocerebellar ataxias: experience of a tertiary care centre in Western India with review of Indian literature","volume":"17","author":"Khadilkar SV","year":"2012","journal-title":"Neurol Asia"},{"key":"e_1_2_7_28_1","first-page":"465","article-title":"SCA 1, SCA 2 & SCA 3\/MJD mutations in ataxia syndromes in southern India","volume":"126","author":"Krishna N","year":"2007","journal-title":"Indian J Med Res"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0404.2002.1o054.x"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.baga.2012.02.003"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.10191"},{"key":"e_1_2_7_32_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0361-9230(01)00596-2"},{"key":"e_1_2_7_33_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aww269"},{"key":"e_1_2_7_34_1","doi-asserted-by":"publisher","DOI":"10.1159\/000072854"},{"key":"e_1_2_7_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12006"},{"key":"e_1_2_7_36_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.CON.0000293568.17705.6a"},{"key":"e_1_2_7_37_1","first-page":"139","volume-title":"Spinocerebellar Ataxia","author":"Merrill RA","year":"2012"},{"key":"e_1_2_7_38_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.12015"},{"key":"e_1_2_7_39_1","first-page":"403","article-title":"A normative study of the Nine Hole Peg Test in Bangladesh","volume":"50","author":"Lindstrom\u2010Hazel D","year":"2015","journal-title":"Work"},{"key":"e_1_2_7_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-51892-7.00034-6"},{"key":"e_1_2_7_41_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-012-0403-5"},{"key":"e_1_2_7_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2015.01.006"},{"key":"e_1_2_7_43_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.10"},{"key":"e_1_2_7_44_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-010-0843-2"},{"key":"e_1_2_7_45_1","first-page":"482","article-title":"Spinocerebellar ataxias in mainland China: an updated genetic analysis among a large cohort of familial and sporadic cases [article in Chinese]","volume":"36","author":"Wang J","year":"2011","journal-title":"Zhong Nan Da Xue Xue Bao Yi Xue Ban"}],"container-title":["Movement Disorders Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmdc3.12551","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mdc3.12551","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T09:13:11Z","timestamp":1760951591000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mdc3.12551"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11]]},"references-count":44,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,1]]}},"alternative-id":["10.1002\/mdc3.12551"],"URL":"https:\/\/doi.org\/10.1002\/mdc3.12551","archive":["Portico"],"relation":{},"ISSN":["2330-1619","2330-1619"],"issn-type":[{"value":"2330-1619","type":"print"},{"value":"2330-1619","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,11]]},"assertion":[{"value":"2017-07-08","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-09-02","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2017-11-01","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}