X-linked adrenoleukodystrophy in Norway Clinical and epidemiological aspects
In 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.
https://www.duo.uio.no/bitstream/handle/10852/48906/1/PhD-Horn-DUO.pdf