ABCMdb

PMID: 14586615

Larner AJ
Adult-onset dementia with prominent frontal lobe dysfunction in X-linked adrenoleukodystrophy with R152C mutation in ABCD1 gene.
J Neurol. 2003 Oct;250(10):1253-4., [PubMed]

Sentences

No. Mutations Sentence Comment

0 ABCD1 p.Arg152Cys J Neurol (2003) 250:-1254 DOI 10.1007/s00415-003-0172-7 A. J. Larner Adult-onset dementia with prominent frontal lobe dysfunction in X-linked adrenoleukodystrophy with R152C mutation in ABCD1 gene Received: 24 March 2003 Accepted: 14 May 2003 Sirs: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder with various clinical phenotypes, dependent on the age of presentation [6]. Login to comment 1 ABCD1 p.Arg152Cys J. Larner Adult-onset dementia with prominent frontal lobe dysfunction in X-linked adrenoleukodystrophy with R152C mutation in ABCD1 gene Received: 24 March 2003 Accepted: 14 May 2003 Sirs: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder with various clinical phenotypes, dependent on the age of presentation [6]. Login to comment 11 ABCD1 p.Arg152Cys Analysis of the X-ALD gene,ATP-binding cassette (ABCD1) [3, 4], showed a missense mutation at codon 454 in exon 1 (454C>T), predicting the substitution R152C in the transmembrane domain of ALD protein. Login to comment 12 ABCD1 p.Arg152Cys Analysis of the X-ALD gene,ATP-binding cassette (ABCD1) [3, 4], showed a missense mutation at codon 454 in exon 1 (454C>T), predicting the substitution R152C in the transmembrane domain of ALD protein. Login to comment 29 ABCD1 p.Arg152Cys Previous reports of R152C mutation have appeared [3, 4] but without details of clinical phenotype. Login to comment 30 ABCD1 p.Arg152Cys Previous reports of R152C mutation have appeared [3, 4] but without details of clinical phenotype. Login to comment