ABCMdb

PMID: 17662307

Sutovsky S, Petrovic R, Chandoga J, Turcani P
Adult onset cerebral form of X-linked adrenoleukodystrophy with dementia of frontal lobe type with new L160P mutation in ABCD1 gene.
J Neurol Sci. 2007 Dec 15;263(1-2):149-53. Epub 2007 Jul 26., [PubMed]

Sentences

No. Mutations Sentence Comment

0 ABCD1 p.Leu160Pro Adult onset cerebral form of X-linked adrenoleukodystrophy with dementia of frontal lobe type with new L160P mutation in ABCD1 gene Stanislav Šutovský a , Robert Petrovič b , Jan Chandoga b , Peter Turčáni a,⁎ a Department of Neurology, Comenius University, Bratislava, Slovakia b Department of Genetics, University Hospital, Bratislava, Slovakia Received 25 September 2006; received in revised form 23 December 2006; accepted 23 January 2007 Available online 26 July 2007 Abstract Background: X-linked adrenoleukodystrophy is a genetically determined disorder that causes varying degrees of malfunction of the adrenal cortex and central nervous system and is characterized by abnormally high levels of very long chain fatty acid in tissues and body fluids. Login to comment 7 ABCD1 p.Leu160Pro Clinical findings referred to adrenoleukodystrophy, consecutively performed genetic analyses showed missense mutation at the codon 479 (TNC) in exon 1 of ABCD 1 gene, predicting the substitution L160P in ALD protein. Login to comment 10 ABCD1 p.Leu160Pro Genetic tests revealed a new mutation at position L160P in ALD protein. Login to comment 12 ABCD1 p.Leu160Pro Keywords: X-linked adrenoleukodystrophy; L160P mutation in ABCD1 gene 1. Login to comment 53 ABCD1 p.Leu160Pro Sequence analysis of the ABCD1 mutant allele in proband revealed a novel mutation c.479TNC predicting the substitution L160P (Fig. 1), his mother was heterozygous for this mutation. Login to comment 61 ABCD1 p.Leu160Pro Sequence determination of c.479TNC (Leu160Pro) mutation of the X-ALD gene. Login to comment 63 ABCD1 p.Leu160Pro stepwise deterioration of intellect and affiliated motor symptoms with biochemically confirmed X-ALD and a novel mutation L160P in ABCD1 gene. Login to comment 77 ABCD1 p.Leu160Pro Analysis of the X-ADL gene (ABCD1) showed a missense mutation at the codon 479 (TNC) in exon 1, predicting the substitution L160P in ALD protein. Login to comment 78 ABCD1 p.Leu160Pro Analysis of the X-ADL gene (ABCD1) showed a missense mutation at the codon 479 (TNC) in exon 1, predicting the substitution L160P in ALD protein. Login to comment 100 ABCD1 p.Leu160Pro We found in this patient a new mutation in ABCD1 gene, at position L160P. Login to comment 101 ABCD1 p.Leu160Pro We found in this patient a new mutation in ABCD1 gene, at position L160P. Login to comment