{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T15:34:14Z","timestamp":1787758454356,"version":"build-2784847793"},"reference-count":8,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>Ataxia-telangiectasia (AT) is a complex genetic neurodegenerative disease with autosomal recessive inheritance. The typical initial features of ataxia telangiectasia include ataxia, cutaneous telangiectasia, and immune deficiency with recurrent infections. Usually, movement disorder occurs late in the course of the disease. A diagnosis of variant or atypical ataxia-telangiectasia (variant AT) is considered in case of any deviation from the normal course of illness giving rise to variable presentations of the disease. Only a few cases of variant AT with predominant movement disorder have been reported worldwide. A knowledge of atypical presentations helps in early diagnosis and thus to initiate management and counselling of the family at the earliest. Here, we report a case of genetically confirmed ataxia-telangiectasia with an initial presentation of dopamine responsive dystonia.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/aian.aian_690_22","type":"journal-article","created":{"date-parts":[[2022,11,23]],"date-time":"2022-11-23T04:32:14Z","timestamp":1669177934000},"page":"1167-1169","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Dopa-Responsive Dystonia"],"prefix":"10.4103","volume":"25","author":[{"given":"Anshita","family":"Arora","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shruti","family":"Bajaj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nishant","family":"Rathod","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anaita U","family":"Hegde","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-30-20240828","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1186\/s13023-016-0543-7","article-title":"Ataxia telangiectasia: A review","volume":"11","author":"Rothblum-Oviatt","year":"2016","journal-title":"Orphanet J Rare Dis"},{"key":"R2-30-20240828","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1212\/WNL.0b013e3182494d51","article-title":"Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites","volume":"78","author":"Saunders-Pullman","year":"2012","journal-title":"Neurology"},{"key":"R3-30-20240828","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"R4-30-20240828","doi-asserted-by":"crossref","first-page":"e184","DOI":"10.3346\/jkms.2018.33.e184","article-title":"Expanding the spectrum of dopa-responsive dystonia (DRD) and proposal for new definition: DRD, DRD-plus, and DRD Look-alike","volume":"33","author":"Lee","year":"2018","journal-title":"J Korean Med Sci"},{"key":"R5-30-20240828","doi-asserted-by":"crossref","first-page":"1897","DOI":"10.1002\/mds.25487","article-title":"Isolated generalized dystonia in biallelic missense mutations of the ATM gene","volume":"28","author":"Meissner","year":"2013","journal-title":"Mov Disord"},{"key":"R6-30-20240828","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1212\/01.wnl.0000198501.61063.66","article-title":"Familial dopa-responsive cervical dystonia","volume":"66","author":"Schneider","year":"2006","journal-title":"Neurology"},{"key":"R7-30-20240828","doi-asserted-by":"crossref","first-page":"1148","DOI":"10.1212\/WNL.0b013e3182a55fa2","article-title":"Ataxia telangiectasia presenting as dopa-responsive cervical dystonia","volume":"81","author":"Charlesworth","year":"2013","journal-title":"Neurology"},{"key":"R8-30-20240828","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1002\/mdc3.12048","article-title":"Dopa-responsive dystonia and chorea as a presenting feature in ataxia-telangiectasia","volume":"1","author":"Thompson","year":"2014","journal-title":"Mov Disord Clin Pract"}],"container-title":["Annals of Indian Academy of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/aian.aian_690_22","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T15:16:53Z","timestamp":1787757413000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/aian.aian_690_22"}},"subtitle":["An Early Presentation of Ataxia-Telangiectasia"],"short-title":[],"issued":{"date-parts":[[2022,11]]},"references-count":8,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2022]]}},"URL":"https:\/\/doi.org\/10.4103\/aian.aian_690_22","relation":{},"ISSN":["0972-2327"],"issn-type":[{"value":"0972-2327","type":"print"}],"subject":[],"published":{"date-parts":[[2022,11]]}}}