{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T00:06:15Z","timestamp":1787097975390,"version":"build-2736575974"},"reference-count":40,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,12,1]],"date-time":"2023-12-01T00:00:00Z","timestamp":1701388800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100012155","name":"National Institute for Medical Research Development","doi-asserted-by":"publisher","award":["4001387"],"award-info":[{"award-number":["4001387"]}],"id":[{"id":"10.13039\/501100012155","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["movementdisorders.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Movement Disord Clin Pract"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Neurodegeneration with Brain Iron Accumulation (NBIA) disorder is a group of ultra\u2010orphan hereditary diseases with very limited data on its course.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To estimate the probability of preserving ambulatory ability and survival in NBIA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this study, the electronic records of the demographic data and clinical assessments of NBIA patients from 2012 to 2023 were reviewed. The objectives of the study and factors impacting them were investigated by Kaplan\u2013Meier and Cox regression methods.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>One hundred and twenty\u2010two genetically\u2010confirmed NBIA patients consisting of nine subtypes were enrolled. Twenty\u2010four and twenty\u2010five cases were deceased and wheelchair\u2010bound, with a mean disease duration of 11\u2009\u00b1\u20096.65 and 9.32\u2009\u00b1\u20095\u2009years. The probability of preserving ambulation and survival was 42.9% in 9\u2009years and 28.2% in 15\u2009years for classical Pantothenate Kinase\u2010Associated Neurodegeneration (PKAN, n\u2009=\u200918), 89.4% in 7\u2009years and 84.7% in 9\u2009years for atypical PKAN (n\u2009=\u200939), 23% in 18\u2009years and 67.8% in 14\u2009years for Mitochondrial Membrane Protein\u2010Associated Neurodegeneration (MPAN, n\u2009=\u200923), 75% in 20\u2009years and 36.5% in 33\u2009years for Kufor Rakeb Syndrome (KRS, n\u2009=\u200917), respectively. The frequencies of rigidity, spasticity, and female gender were significantly higher in deceased cases compared to surviving patients. Spasticity was the only factor associated with death (<jats:italic>P<\/jats:italic> value\u2009=\u20090.03).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>KRS had the best survival with the most extended ambulation period. The classical PKAN and MPAN cases had similar progression patterns to loss of ambulation ability, while MPAN patients had a slower progression to death. Spasticity was revealed to be the most determining factor for death.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mdc3.13933","type":"journal-article","created":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T07:06:41Z","timestamp":1700550401000},"page":"53-62","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Estimation of Ambulation and Survival in Neurodegeneration with Brain Iron Accumulation Disorders"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7223-2391","authenticated-orcid":false,"given":"Elahe","family":"Amini","sequence":"first","affiliation":[{"name":"Skull Base Research Center, The Five Senses Health Institute, Rasoul Akram Hospital Iran University of Medical Sciences  Tehran Iran"},{"name":"Department of Neurology, Rasoul Akram Hospital Iran University of Medical Sciences  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5409-1804","authenticated-orcid":false,"given":"Mohammad","family":"Rohani","sequence":"additional","affiliation":[{"name":"Department of Neurology, Rasoul Akram Hospital Iran University of Medical Sciences  Tehran Iran"},{"name":"ENT and Head and Neck Research Center and Department The Five Senses Health Institute, School of Medicine, Iran University of Medical Sciences (IUMS)  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1229-3667","authenticated-orcid":false,"given":"Anthony E.","family":"Lang","sequence":"additional","affiliation":[{"name":"Morton and Gloria Shulman Movement Disorders Centre, Toronto Western Hospital and Edmond J. 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