ABCMdb

PMID: 22176151

Engelen M, van der Kooi AJ, Kemp S, Wanders RJ, Sistermans EA, Waterham HR, Koelman JT, van Geel BM, de Visser M
X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy.
J Peripher Nerv Syst. 2011 Dec;16(4):353-5. doi: 10.1111/j.1529-8027.2011.00367.x., [PubMed]

Sentences

No. Mutations Sentence Comment

20 ABCD1 p.Met1Val These results prompted mutation analysis of the ABCD1 gene, which revealed a missense mutation (c.1A>G) in the start codon of the ABCD1 gene, resulting in the substitution of the initiator methionine to a valine residue (p.Met1Val). Login to comment 26 ABCD1 p.Met1Val The Met1Val mutation affects adrenoleukodystrophy protein (ALDP) stability. Login to comment 29 ABCD1 p.Arg554His Lanes 1 and 4, protein extracts from two different control subjects; lane 2, the index patient; lane 3, protein extract from an X-ALD patient with a p.Arg554His mutation that results in no detectable ALDP (www.x-ald.nl). Login to comment 46 ABCD1 p.Arg389His Recently a patient with pes cavus, spasticity and a primarily demyelinating neuropathy with variable, focal slowing of motor nerve conduction velocities (NCVs) but relative preservation of motor and sensory amplitudes was described who was found to have both a PMP22 gene deletion consistent with a hereditary neuropathy with liability to pressure palsies and a c.1166G>A mutation in the ABCD1 gene, causing an amino acid substitution at codon 389 (p.Arg389His) (Hodapp et al., 2006). Login to comment