{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T12:25:24Z","timestamp":1791116724594,"version":"4.1.0"},"reference-count":39,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,10,28]],"date-time":"2003-10-28T00:00:00Z","timestamp":1067299200000},"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":[[2004,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hallervorden Spatz syndrome (HSS), also referred to as neurodegeneration with brain iron accumulation (NBIA), is a rare inherited neurodegenerative disorder with childhood, adolescent, or adult onset. Patients with HSS\/NBIA have a combination of motor symptoms in the form of dystonia, parkinsonism, choreoathetosis, corticospinal tract involvement, optic atrophy, pigmentary retinopathy, and cognitive impairment. After the recent identification of mutations in the <jats:italic>PANK2<\/jats:italic> gene on chromosome 20p12.3\u2013p13 in some patients with the HSS\/NBIA phenotype, the term pantothenate kinase\u2010associated neurodegeneration (PKAN) has been proposed for this group of disorders. To characterize clinically and genetically HSS\/NBIA, we reviewed 34 affected individuals from 10 different families, who satisfied the inclusion criteria for NBIA. Relatives of patients who had clinical, magnetic resonance imaging (MRI), or pathological findings of NBIA were included in the study. Four patients were found to have mutations in the pantothenate kinase 2 (<jats:italic>PANK2<\/jats:italic>) gene. We compared the clinical features and MRI findings of those with and without <jats:italic>PANK2<\/jats:italic> mutations. The presence of mutation in the <jats:italic>PANK2<\/jats:italic> gene is associated with younger age at onset and a higher frequency of dystonia, dysarthria, intellectual impairment, and gait disturbance. Parkinsonism is seen predominantly in adult\u2010onset patients whereas dystonia seems more frequent in the earlier\u2010onset cases. The phenotypic heterogeneity observed in our patients supports the notion of genetic heterogeneity in the HSS\/NBIA syndrome. \u00a9 2003 Movement Disorder Society<\/jats:p>","DOI":"10.1002\/mds.10650","type":"journal-article","created":{"date-parts":[[2004,1,21]],"date-time":"2004-01-21T05:01:49Z","timestamp":1074661309000},"page":"36-42","source":"Crossref","is-referenced-by-count":135,"title":["Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden\u2010Spatz syndrome) and pantothenate kinase\u2010associated neurodegeneration"],"prefix":"10.1002","volume":"19","author":[{"given":"Madhavi","family":"Thomas","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan J.","family":"Hayflick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Jankovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,1,6]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02878455"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1974.00490310072012"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1991.00530240091029"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(01)00253-3"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00316039"},{"key":"e_1_2_6_7_2","series-title":"Progress in neuropathology","first-page":"129","author":"Jellinger K","year":"1973"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1296-479"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng572"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa020817"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/0303-8467(80)90016-5"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00690505"},{"key":"e_1_2_6_13_2","first-page":"13","article-title":"Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases","volume":"114","author":"Hardie RJ","year":"1991","journal-title":"Brain"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.10012"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.50.12.1665"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.35.2.227"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.69.3.392"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.870090322"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.10105"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(01)00184-X"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1073034"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.1007\/s003810050196"},{"key":"e_1_2_6_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(79)90648-2"},{"key":"e_1_2_6_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(14)78308-4"},{"key":"e_1_2_6_25_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00856805"},{"key":"e_1_2_6_26_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.38.1.154"},{"key":"e_1_2_6_27_2","first-page":"155","article-title":"Hallervorden\u2010Spatz disease: MR and pathologic findings","volume":"14","author":"Savoiardo M","year":"1993","journal-title":"Am J Neuroradiol"},{"key":"e_1_2_6_28_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410240519"},{"key":"e_1_2_6_29_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00588145"},{"key":"e_1_2_6_30_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(01)00269-7"},{"key":"e_1_2_6_31_2","doi-asserted-by":"publisher","DOI":"10.1159\/000008115"},{"key":"e_1_2_6_32_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng571"},{"key":"e_1_2_6_33_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.73.1.91"},{"key":"e_1_2_6_34_2","first-page":"32A","article-title":"Hallervordern Spatz disease and acanthocytes","volume":"53","author":"Muthane UB","year":"1999","journal-title":"Neurology"},{"key":"e_1_2_6_35_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00266820"},{"key":"e_1_2_6_36_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.11.1673"},{"key":"e_1_2_6_37_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(00)00243-5"},{"key":"e_1_2_6_38_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.42.11.2214"},{"key":"e_1_2_6_39_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMp020158"},{"key":"e_1_2_6_40_2","volume-title":"Genetics of movement disorders","author":"Hayflick SJ","year":"2002"}],"container-title":["Movement Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.10650","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmds.10650","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mds.10650","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,20]],"date-time":"2025-10-20T09:49:22Z","timestamp":1760953762000},"score":1,"resource":{"primary":{"URL":"https:\/\/movementdisorders.onlinelibrary.wiley.com\/doi\/10.1002\/mds.10650"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,1]]},"references-count":39,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2004,1]]}},"alternative-id":["10.1002\/mds.10650"],"URL":"https:\/\/doi.org\/10.1002\/mds.10650","archive":["Portico"],"relation":{},"ISSN":["0885-3185","1531-8257"],"issn-type":[{"value":"0885-3185","type":"print"},{"value":"1531-8257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,1]]}}}