X-linked adrenoleukodystrophy in Norway Clinical and epidemiological aspects
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SammendragIn this thesis for the degree of PhD, cand.med. Morten Andreas Horn and his coworkers have surveyed the Norwegian population of patients with X-linked adrenoleukodystrophy. Their findings contribute to our knowledge of the prevalence and incidence of X-ALD, as well as the rate of new mutations among newborns. The researchers gained new knowledge about the severity and progression of X-ALD among males and females, and describe a pattern of age-dependent penetrance. On the other hand, cases with mild phenotypes are also found, and may be more important if newborn screening for X-ALD is introduced. A separate paper describes small nerve fiber involvement in X-ALD patients, a finding not previously reported.
|Paper I Horn MA, Retterstøl L, Abdelnoor M, Skjeldal OH, Tallaksen CME. Adrenoleukodystrophy in Norway: High rate of de novo mutations and agedependent penetrance. Pediatr Neurol 2013;48:212-219. The paper is not available in DUO due to publisher restrictions. The published version is available at: https://doi.org/10.1016/j.pediatrneurol.2012.12.007|
|Paper II Horn MA, Nilsen KB, Jørum E, Mellgren SI, Tallaksen CME. Small nerve fiber involvement is frequent in X-linked adrenoleukodystrophy. Neurology 2014;82:1678-1683. The paper is not available in DUO due to publisher restrictions. The published version is available at: https://doi.org/10.1212/WNL.0000000000000415|
|Paper III Horn MA, Erichsen MM, Wolff ASB, Månsson JE, Husebye ES, Tallaksen CME, Skjeldal OH. Screening for X-linked adrenoleukodystrophy among adult men with Addison’s disease. Clin Endocrinol (Oxf.) 2013;79:316-320. The paper is not available in DUO due to publisher restrictions. The published version is available at: https://doi.org/10.1111/cen.12159|
|Paper IV Horn MA, Woldseth B, Skjeldal OH, Celius EG, Tallaksen CME. X-linked adrenoleukodystrophy as differential diagnosis of primary progressive multiple sclerosis. To be published. The paper is not available in DUO awaiting publishing.|
|Paper V Horn MA, Mikaelsen KBM, Ferdinandusse S, Jørum E, Mellgren SI, Retterstøl L, Wanders RJA, Tallaksen CME. Mild phenotype in an adult male with X-linked adrenoleukodystrophy – case report. Clin Case Rep. 2015;4:177-181. http://urn.nb.no/URN:NBN:no-52637|