Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress 2023 EHA Congress 2023 ASCO Annual Meeting
Clinical Collections
Advances in Alzheimer’s

Keynote webinar | Spotlight on sleep in brain health

LIVE: Thursday 2nd May 2024, 18:00-19:30 (CEST)

Quality sleep is essential for health. But what happens to our brains when sleep patterns are disturbed? Join our experts to explore the interplay between sleep disruption and neurological diseases, and the questions that you need to be asking your patients to help you prevent the harmful effects of sleep deprivation.
ADVANCED SEARCH
Log in
Top
BMC Neurology
Published in: BMC Neurology 1/2015

Open Access 01-12-2015 | Case report

A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report

Published in: BMC Neurology | Issue 1/2015

Login to get access

Abstract

Background

X-linked adrenoleukodystrophy (X-ALD; OMIM: 300100) is the most common peroxisomal disease caused by mutations in the ATP-binding cassette, sub-family D member 1 gene or ABCD1 (geneID: 215), the coding gene for the adrenoleukodystrophy protein (ALDP), which is an ATP-binding transport protein associated to an active transport of very long chain fatty acids (VLCFAs). Dysfunction of ALDP induces an accumulation of VLCFAs in all tissues leading to a neurodegenerative disorder that involves the nervous system white matter.

Case presentation

In our case report, magnetic resonance imaging (MRI) as well as the high levels of VLCFAs prompted the diagnosis the X-ALD. Molecular analysis of ABCD1 gene have shown a pathogenic homozygous nonsense mutation (c.1677C > G; p.(Tyr559*)) in exon 7.

Conclusion

Thus, we identified here a novel mutation in the ABCD1 gene in a Moroccan patient causing X-linked adrenoleukodystrophy.
Literature
1.
Mosser J, Douar AM, Sarde CO, Kioschis P, Feil R, Moser H, et al. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature. 1993;361:726–30.CrossRefPubMed
2.
Singh I, Moser HW, Moser AB, Kishimoto Y. Adrenoleukodystrophy: impaired oxidation of long chain fatty acids in cultured skin fibroblasts an adrenal cortex. Biochem Biophys Res Commun. 1981;102:1223–9.CrossRefPubMed
3.
Moser HW. Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy. Brain. 1997;120:1485–508.CrossRefPubMed
4.
Kemp S, Berger J, Aubourg P. X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects. Biochim Biophys Acta BBA - Mol Basis Dis. 1822;2012:1465–74.
5.
Kemp S, Pujol A, Waterham HR, van Geel BM, Boehm CD, Raymond GV, et al. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations. Hum Mutat. 2001;18:499–515.CrossRefPubMed
6.
Bezman L, Moser AB, Raymond GV, Rinaldo P, Watkins PA, Smith KD, et al. Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. Ann Neurol. 2001;49:512–7.CrossRefPubMed
7.
Haberfeld DW, Spieler DF. Zur diffusen Hirn-Rückenmarksklerose im Kindesalter. Dtsch Z Für Nervenheilkd. 1910;40:436–63.CrossRef
8.
Blaw ME. Melanodermic type leukodystrophy (adrenoleukodystrophy). Handb Clin Neurol. 1970;10:128–33.
9.
Migeon BR, Moser HW, Moser AB, Axelman J, Sillence D, Norum RA. Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells. Proc Natl Acad Sci U S A. 1981;78:5066–70.PubMedCentralCrossRefPubMed
10.
Neumann S, Topper A, Mandel H, Shapira I, Golan O, Gazit E, et al. Identification of new mutations in Israeli patients with X-linked adrenoleukodystrophy. Genet Test. 2001;5:65–8.CrossRefPubMed
11.
Kallabi F, Hadj Salem I, Ben Salah G, Ben Turkia H, Ben Chehida A, Tebib N, et al. Molecular Characterization of X-Linked Adrenoleukodystrophy in a Tunisian Family: Identification of a Novel Missense Mutation in the ABCD1 Gene. Neurodegener Dis. 2013;12:207–11.CrossRefPubMed
12.
Kallabi F, Hadj Salem I, Ben Chehida A, Ben Salah G, Ben Turkia H, Tebib N, et al. Splicing defects in ABCD1 gene leading to both exon skipping and partial intron retention in X-linked adrenoleukodystrophy Tunisian patient. Neurosci Res. 2015;97:7–12.CrossRefPubMed
13.
Cai Y, Jiang M, Liang C, Peng M, Cheng J, Sheng H, et al. A novel ABCD1 gene mutation in a Chinese patient with X-linked adrenoleukodystrophy. J Pediatr Endocrinol Metab. 2014.
Metadata
Title
A novel mutation in the ABCD1 gene of a Moroccan patient with X-linked adrenoleukodystrophy: case report
Publication date
01-12-2015
Published in
BMC Neurology / Issue 1/2015
Electronic ISSN: 1471-2377
DOI
https://doi.org/10.1186/s12883-015-0503-1

Other articles of this Issue 1/2015

BMC Neurology 1/2015 Go to the issue

Study protocol

HEart and BRain interfaces in Acute ischemic Stroke (HEBRAS) – rationale and design of a prospective oberservational cohort study

Study protocol

Protocol of a randomised delayed-start double-blind placebo-controlled multi-centre trial for Levodopa in EArly Parkinson’s disease: the LEAP-study

Research article

Impact of sex in stroke thrombolysis: a coarsened exact matching study

Research article

Asystole in the epilepsy unit

Study protocol

Design of the Park-in-Shape study: a phase II double blind randomized controlled trial evaluating the effects of exercise on motor and non-motor symptoms in Parkinson’s disease

Case report

Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review