PMID: 25488625

van Geel BM, Poll-The BT, Verrips A, Boelens JJ, Kemp S, Engelen M
Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study.
J Inherit Metab Dis. 2015 Mar;38(2):359-61. doi: 10.1007/s10545-014-9797-1. Epub 2014 Dec 9., [PubMed]
Sentences
No. Mutations Sentence Comment
50 ABCD1 p.Pro543Leu
X
ABCD1 p.Pro543Leu 25488625:50:365
status: NEW
view ABCD1 p.Pro543Leu details
ABCD1 p.Pro543Leu
X
ABCD1 p.Pro543Leu 25488625:50:421
status: NEW
view ABCD1 p.Pro543Leu details
ABCD1 p.Leu220Pro
X
ABCD1 p.Leu220Pro 25488625:50:477
status: NEW
view ABCD1 p.Leu220Pro details
 Table 1 Summary of clinical characteristics of the five patients Transplantation VLCFA pre-Tx VLCFA post-Tx Examination Patient Age Tx Donor Chimerism GvH C26:0 C26/C22 C26:0 C26/C22 Age AI myelopathy Mutation A 4 sib 100 % No 2.26 0.06 2.48 0.05 23 + + p.Ile657del B 6 MUD n.a. No 2.56 0.08 1.6 0.08 18 + - not known C1 9 MUD 100 % No n.a. n.a. 0.77 0.02 25 + + p.Pro543Leu C2 7 MUD 100 % No 5.17 0.07 1.7 0.03 22 + + p.Pro543Leu D 6 sib 100 % No 1.75 0.06 2.73 0.05 23 + - p.Leu220Pro Age Tx = age at which hematopoietic cell transplantation was performed; sib = sister or brother, HLA matched; MUD = matched unrelated donor; chimerism = percentage of donor chimerism at long-term follow-up; GvH = chronic graft versus host disease; pre-and post-Tx = pre-and posttransplantation; Age = age at last neurological examination; AI = adrenocortical insufficiency. Login to comment