ABCMdb

ABCD1 p.His669Tyr

Predicted by SNAP2:	A: N (57%), C: N (57%), D: D (59%), E: N (53%), F: N (61%), G: N (53%), I: N (53%), K: N (57%), L: N (78%), M: N (72%), N: N (61%), P: D (71%), Q: N (72%), R: N (66%), S: N (61%), T: N (57%), V: N (57%), W: N (66%), Y: N (87%),
Predicted by PROVEAN:	A: D, C: D, D: D, E: D, F: D, G: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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Publications
[hide] Intravenous immunoglobulin treatment in a patient ... BMC Neurol. 2012 Sep 26;12:108. doi: 10.1186/1471-2377-12-108. Jonch AE, Danielsen ER, Thomsen C, Meden P, Svenstrup K, Nielsen JE
Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy.
BMC Neurol. 2012 Sep 26;12:108. doi: 10.1186/1471-2377-12-108., [PMID:23009600]

Abstract [show]
BACKGROUND: Adrenomyeloneuropathy (AMN) is one of several phenotypes of the adrenoleukodystrophy spectrum caused by mutations in the ABCD1 gene on the X chromosome. An inflammatory component is part of the disease complex ranging from severe childhood CNS demyelination to spinal cord and peripheral nerve degeneration. CASE PRESENTATION: We present a patient with clinical progressive AMN and severe lower limb pain. Longitudinal brain magnetic resonance spectroscopy showed a constant slightly elevated myoinositol/total creatine ratio during the five year treatment period, probably reflecting demyelination, microglial activation and gliosis, indicating an inflammatory response. The pain was refractory to conventional therapy but intravenous immunoglobulin (IVIG) treatment was highly efficient. CONCLUSION: IVIG may be considered as a last resort for treatment of refractory pain in AMN patients with indications of an inflammatory component.

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Sentences [show]
No. Sentence Comment
34 The AMN diagnosis was confirmed by identification of a novel c.2005C>T mutation in the ABCD1 gene (Reference sequence: NM00033.3) predicting an amino acid shift from histidine to tyrosine at position 669 p. His669Tyr. Login to comment