Frequent occurrence of cerebral demyelination in adrenomyeloneuropathy.
OBJECTIVE
To study the frequency of additional cerebral demyelination in Dutch patients with adrenomyeloneuropathy (AMN).


METHODS
Consecutive patients with AMN from the Dutch X-linked adrenoleukodystrophy cohort without cerebral demyelination on MRI at inclusion, seen between January 1, 1992, and January 1, 1999, were included. Primary endpoints were brain involvement, death, or the end of follow-up on January 1, 2011. Three levels of certainty were used for cerebral demyelination: (1) signs and symptoms reported by relatives and treating physicians, confirmed by brain MRI; if follow-up MRIs were not available, (2) based upon information from treating physicians and relatives, and (3) based upon information obtained from relatives only. Results were compared with a study published in 2001, in which 13/68 (19.1%) patients with AMN developed cerebral demyelination in 9.5 ± 5.5 years. Differences of the proportions of patients with cerebral demyelination and their 95% confidence intervals (CIs) were calculated.


RESULTS
Of 27 patients with AMN, 17 (63%) developed cerebral demyelination 10.2 ± 6.9 years after onset of myelo(neuro)pathy. Mean survival was 3.4 ± 2.9 years. Brain involvement was higher in Dutch patients with AMN (difference 44%, 95% CI 0.23-0.64).


CONCLUSIONS
Cerebral demyelination in AMN may be more frequent than previously reported. Survival is as poor as in childhood cerebral adrenoleukodystrophy. Therapies that can halt cerebral demyelination in these patients are needed.
From the Department of Neurology (M.d.B.), Haga Hospital, The Hague; the Department of Pediatric Neurology (M.E.), Emma Children's Hospital, Amsterdam; the Department of Neurology (M.E., B.M.v.G.), Academic Medical Center, University of Amsterdam; and the Department of Neurology (B.M.v.G.), Medical Center Alkmaar, the Netherlands. M.deBeer@hagaziekenhuis.nl.
Marlijn
M
de Beer
From the Department of Neurology (M.d.B.), Haga Hospital, The Hague; the Department of Pediatric Neurology (M.E.), Emma Children's Hospital, Amsterdam; the Department of Neurology (M.E., B.M.v.G.), Academic Medical Center, University of Amsterdam; and the Department of Neurology (B.M.v.G.), Medical Center Alkmaar, the Netherlands.
Marc
M
Engelen
From the Department of Neurology (M.d.B.), Haga Hospital, The Hague; the Department of Pediatric Neurology (M.E.), Emma Children's Hospital, Amsterdam; the Department of Neurology (M.E., B.M.v.G.), Academic Medical Center, University of Amsterdam; and the Department of Neurology (B.M.v.G.), Medical Center Alkmaar, the Netherlands.
Björn M
BM
van Geel
D000326:Adrenoleukodystrophy / Q000453:epidemiology* / Q000473:pathology; D000328:Adult; D001921:Brain / Q000473:pathology; D001927:Brain Diseases / Q000453:epidemiology* / Q000473:pathology; D015331:Cohort Studies; D003711:Demyelinating Diseases / Q000453:epidemiology* / Q000473:pathology; D005500:Follow-Up Studies; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009426:Netherlands / Q000453:epidemiology; D055815:Young Adult