{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T10:59:06Z","timestamp":1776423546483,"version":"3.51.2"},"reference-count":17,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2010,4,1]],"date-time":"2010-04-01T00:00:00Z","timestamp":1270080000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Movement Disorders"],"published-print":{"date-parts":[[2010,7,30]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Neurodegeneration with brain iron accumulation (NBIA) is etiologically, clinically, and by imaging a heterogeneous group including NBIA types 1 [pantothenate kinase\u2010associated neurodegeneration (PKAN)] and 2 (<jats:italic>PLA2G6<\/jats:italic>\u2010associated neurodegeneration), neuroferritinopathy, and aceruloplasminaemia. Data on genetically defined Indian\u2010subcontinent NBIA cases are limited. We report 6 patients from the Indian\u2010subcontinent with a movement disorder and MRI basal ganglia iron deposition, compatible with diagnosis of an NBIA syndrome. All patients were screened for abnormalities in serum ceruloplasmin and ferritin levels and mutations in NBIA\u2010associated genes [pantothenate kinase 2 (<jats:italic>PANK2<\/jats:italic>), <jats:italic>PLA2G6<\/jats:italic> and <jats:italic>ferritin light chain<\/jats:italic> (exon 4)]. We present clinical, imaging and genetic data correlating phenotype\u2013genotype relations. Four patients carried <jats:italic>PANK2<\/jats:italic> mutations, two of these were novel. The clinical phenotype was mainly dystonic with generalized dystonia and marked orobulbar features in the 4 adolescent\u2010onset cases. One of the four had a late\u2010onset (age 37) unilateral jerky postural tremor. His mutation, c.1379C&gt;T, appears associated with a milder phenotype. Interestingly, he developed the eye\u2010of\u2010the\u2010tiger sign only 10 years after onset. Two of the six presented with adult\u2010onset levodopa (<jats:sc>L<\/jats:sc>\u2010dopa)\u2010responsive asymmetric re\u2010emergent rest tremor, developing <jats:sc>L<\/jats:sc>\u2010dopa\u2010induced dyskinesias, and good benefit to deep brain stimulation (in one), thus resembling Parkinson's disease (PD). Both had an eye\u2010of\u2010the\u2010tiger sign on MRI but were negative for known NBIA\u2010associated genes, suggesting the existence of further genetic or sporadic forms of NBIA syndromes. In conclusion, genetically determined NBIA cases from the Indian subcontinent suggest presence of unusual phenotypes of <jats:italic>PANK2<\/jats:italic> and novel mutations. The phenotype of NBIA of unknown cause includes a PD\u2010like presentation. \u00a9 2010 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.23095","type":"journal-article","created":{"date-parts":[[2010,4,1]],"date-time":"2010-04-01T16:56:59Z","timestamp":1270141019000},"page":"1424-1431","source":"Crossref","is-referenced-by-count":43,"title":["Indian\u2010subcontinent NBIA: Unusual phenotypes, novel <i>PANK2<\/i> mutations, and undetermined genetic forms"],"prefix":"10.1002","volume":"25","author":[{"given":"Annu","family":"Aggarwal","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanne A.","family":"Schneider","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monty","family":"Silverdale","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reema","family":"Paudel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Coro","family":"Paisan\u2010Ruiz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shrinivas","family":"Desai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mihir","family":"Munshi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Darshana","family":"Sanghvi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Hardy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kailash P.","family":"Bhatia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohit","family":"Bhatt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,7,23]]},"reference":[{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.22314"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410240519"},{"key":"e_1_2_8_4_2","doi-asserted-by":"publisher","DOI":"10.1086\/508572"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21415"},{"key":"e_1_2_8_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000310985.40011.d6"},{"key":"e_1_2_8_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awl319"},{"key":"e_1_2_8_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(08)70022-X"},{"key":"e_1_2_8_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000237446.06971.72"},{"key":"e_1_2_8_10_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa020817"},{"key":"e_1_2_8_11_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.061929"},{"key":"e_1_2_8_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20280"},{"key":"e_1_2_8_13_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000286384.31050.b5"},{"key":"e_1_2_8_14_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02859271"},{"key":"e_1_2_8_15_2","doi-asserted-by":"publisher","DOI":"10.4103\/0028-3886.15072"},{"key":"e_1_2_8_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2005.11.007"},{"key":"e_1_2_8_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/jmri.20830"},{"key":"e_1_2_8_18_2","doi-asserted-by":"publisher","DOI":"10.1177\/088307389701200413"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.23095","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.23095","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T09:59:52Z","timestamp":1760954392000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.23095"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,7,23]]},"references-count":17,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2010,7,30]]}},"alternative-id":["10.1002\/mds.23095"],"URL":"https:\/\/doi.org\/10.1002\/mds.23095","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,7,23]]}}}