ABCMdb

PMID: 24480483

Engelen M, Barbier M, Dijkstra IM, Schur R, de Bie RM, Verhamme C, Dijkgraaf MG, Aubourg PA, Wanders RJ, van Geel BM, de Visser M, Poll-The BT, Kemp S
X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.
Brain. 2014 Mar;137(Pt 3):693-706. doi: 10.1093/brain/awt361. Epub 2014 Jan 29., [PubMed]

Sentences

No. Mutations Sentence Comment

141 ABCD1 p.Arg660Trp ABCD1 p.Arg660Trp ABCD1 p.Arg660Trp ABCD1 p.Ser149Asn ABCD1 p.Ser149Asn ABCD1 p.Pro543Leu ABCD1 p.Pro543Leu ABCD1 p.Pro543Leu ABCD1 p.Pro543Leu ABCD1 p.Glu609Lys ABCD1 p.Glu609Lys ABCD1 p.Leu654Pro ABCD1 p.Leu654Pro ABCD1 p.Arg389His ABCD1 p.Arg389His ABCD1 p.Arg389His ABCD1 p.Arg389His ABCD1 p.Leu220Pro ABCD1 p.Leu220Pro ABCD1 p.Leu220Pro ABCD1 p.Leu220Pro ABCD1 p.Leu220Pro ABCD1 p.Arg74Trp ABCD1 p.Arg74Trp ABCD1 p.Arg74Trp ABCD1 p.Met1Val ABCD1 p.Pro480Thr ABCD1 p.Pro480Thr ABCD1 p.Pro480Thr ABCD1 p.Ala245Asp ABCD1 p.His283Tyr Table 1 Summary of symptoms and signs of all the female participating in the study Family Age (years) Urinary incontinence Faecal incontinence Gait disorder Sensory complaints Sensory disturbance Spasticity Weakness Pathological reflexes EDSS Mutation ABCD1 protein A 44 No No Yes No No No No Yes 1.0 p.Pro480Thr Absent A 56 Yes Yes No No No No No Yes 1.5 p.Pro480Thr Absent AA 45 No No No No No No No No 0 p.Arg660Trp Absent AA 59 Yes No Yes No No No Yes Yes 3.5 p.Arg660Trp Absent AA 75 Yes No Yes No Yes Yes Yes Yes 6.0 p.Arg660Trp Absent B 42 Yes Yes Yes No Yes Yes Yes Yes 4.0 p.Leu220Pro Reduced B 44 No No No No No No No No 0 p.Leu220Pro Reduced B 44 No No No No No No No No 0 p.Leu220Pro Reduced B 51 No No No Yes Yes No No No 1.0 p.Leu220Pro Reduced B 59 No No No Yes Yes No Yes No 2.0 p.Leu220Pro Reduced C 44 No No No No No No No No 0 p.Gln133* Absent D 38 Yes Yes Yes No Yes Yes Yes Yes 6.0 p.Leu654Pro Absent D 57 Yes No Yes Yes Yes No No Yes 5.5 p.Leu654Pro Absent E 31 No No No No No No No No 0 p.Arg74Trp Absent E 37 No No No No No No No No 0 p.Arg74Trp Absent E 60 No No Yes No Yes Yes Yes Yes 5.5 p.Arg74Trp Absent F 35 No No No No No No No No 0 p.Met1Val Absent G 42 No Yes No No No No No No 1.0 p.Ala245Asp Present H 61 Yes Yes Yes Yes Yes No No Yes 3.5 exon8-10del Absent I 71 No No No No Yes No No Yes 2.0 p.Glu609Lys Absent J 42 No No No No Yes No No Yes 1.5 p.Glu90* Absent K 31 No No No No No No No No 0 p.Pro543Leu Absent K 48 Yes No No No Yes No No Yes 2.5 p.Pro543Leu Absent K 57 No No Yes Yes Yes No Yes Yes 3.5 p.Pro543Leu Absent K 60 Yes No No No Yes No No Yes 3.5 p.Pro543Leu Absent L 51 Yes No Yes No Yes Yes Yes Yes 6.5 p.Ile657del Absent M 22 No No No No No No No No 0 p.Ser149Asn Reduced M 40 No No No No No No No No 0 p.Ser149Asn Reduced N 29 No No No No No No No No 0 p.Arg389His Reduced N 45 Yes No No Yes No No No No 2.0 p.Arg389His Reduced N 57 Yes Yes Yes Yes Yes No No No 3.5 p.Arg389His Reduced N 70 No No Yes No Yes No Yes Yes 3.5 p.Arg389His Reduced O 40 Yes Yes Yes Yes Yes No No Yes 3.5 p.Glu609Lys Absent P 59 Yes Yes Yes Yes Yes Yes Yes Yes 6.0 p.Leu215* Absent Q 39 No Yes Yes No Yes No No No 3.0 p.Val208Trpfs Absent R 28 No No No No No No No No 0 p.Pro480Thr Absent S 35 No No No No No No No No 0 p.His283Tyr Reduced (continued) Correlation studies of X-inactivation with asymptomatic or symptomatic status The distribution of ABCD1 allele-specific expression (which will be referred to as the pattern of X-inactivation) is shown in Fig. 5A. Login to comment 163 ABCD1 p.Glu609Gly ABCD1 p.Ala616Thr ABCD1 p.Ala616Thr ABCD1 p.His283Tyr Table 1 Continued Family Age (years) Urinary incontinence Faecal incontinence Gait disorder Sensory complaints Sensory disturbance Spasticity Weakness Pathological reflexes EDSS Mutation ABCD1 protein S 76 Yes No Yes No Yes No No Yes 2.0 p.His283Tyr Reduced T 51 Yes Yes Yes No Yes No Yes Yes 4.0 p.Gln177* Absent U 47 Yes Yes No No Yes No No No 2.0 p.Arg464* Absent V 56 Yes No Yes No Yes No Yes Yes 2.5 p.Asp442Glyfs Absent W 45 Yes Yes Yes Yes Yes No No Yes 3.5 p.Ala616Thr Absent W 65 No Yes No No No No No No 2.0 p.Ala616Thr Absent X 47 Yes No Yes No No No No Yes 2.5 p.Arg113Alafs Absent Y 24 No No No No No No No No 0 p.Glu609Gly a Absent a Z 50 No No No No Yes No No Yes 2.0 p.Ser633Argfs Absent Age = age at examination; urinary incontinence = urge incontinence; faecal incontinence = soiling and urge incontinence; gait = gait disorder, for instance unable to run; sensory complaints = numbness or tingling; sensory disturbance = sensory symptoms on neurological examinations; spasticity = spasticity of the lower extremities; weakness = paresis of the lower extremities, Pathological reflexes: pathological reflexes in the lower extremities, EDSS = expanded disability status scale; mutation = mutation in ABCD1; ABCD1 protein = effect of mutation in ABCD1 on ABCD1 protein as determined by immunoblot. Login to comment