Accurate DNA-Based Diagnostic and Carrier Testing for X-Linked Adrenoleukodystrophy

Boehm, Corinne D.; Cutting, Garry R.; Lachtermacher, M.B.R.; Moser, Hugo W.; Chong, Samuel S.

doi:10.1006/mgme.1998.2779

Cited by 102 publications

(75 citation statements)

References 13 publications

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“…This can be achieved through genetic counseling. Mutation analysis permits reliable identification of women who are heterozygous for X-ALD 14 and should be offered to all women who are at risk. Prenatal diagnosis that combines biochemical, immunological and DNA analysis is reliable.…”

Section: Preventionmentioning

confidence: 99%

Therapy of X-linked adrenoleukodystrophy

Moser

2006

NeuroRX

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Summary: Current therapies for X-linked adrenoleukodystrophy (X-ALD) include replacement therapy with adrenal steroids, which is mandatory for all patients with impaired adrenal function but does not alter neurological progression significantly; dietary therapy with "Lorenzo's Oil," which appears to have a preventive effect in asymptomatic boys whose brain MRI is normal; and hematopoietic stem cell transplantation in patients in the early stage of the cerebral inflammatory phenotype. Application of these interventions requires careful assessment of the patients' phenotype, which often changes over time. Family screening provides important opportunities for disease prevention.

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Section: Preventionmentioning

confidence: 99%

Therapy of X-linked adrenoleukodystrophy

Moser

2006

NeuroRX

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“…It is caused by mutations in the ABCD1 gene. 1 Abnormal protein prevents normal transport of VLCFA into peroxisomes, thereby preventing b-oxidation and breakdown of VLCFA. Accumulation of abnormal VLCFA in affected organs is presumed to underlie the pathologic process of the ALDs.…”

Section: Sectionmentioning

confidence: 99%

“…Mutation in the ABCD1 gene located on Xq28 is pathogenic in a majority of the individuals. 1 Plasma concentration of VLCFA (concentration of C26:0, ratio of C24:0 to C22:0, ratio of C26:0 to C22:0) is abnormally elevated in this disorder. 2 Based on the clinical presentation, family history, abnormal laboratory data, and positive genetic testing, the patient was diagnosed with X-linked AMN.…”

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confidence: 92%

Clinical Reasoning: A 56-year-old man with progressive spasticity

2013

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A 56-year-old man presented with progressive neurologic symptoms that developed more than 14 years ago. His symptoms started with numbness in the toes, followed by slowly progressive lower extremity weakness, increase in tone, and imbalance. He also developed bladder and bowel urgency, constipation, and erectile dysfunction. He did not have any symptoms in his arms.His neurologic examination showed symmetric weakness in the lower extremities, marked spasticity with hyperreflexia, and bilateral Babinski signs. Sensory examination showed loss of vibration and pinprick in his feet on both sides. His gait was spastic. The remainder of the general medical examination had normal results.Family history revealed 2 nephews who died at ages 12 and 13 years from complications related to an uncategorized progressive neurologic disease, a brother who had progressive spasticity starting at age 20, a mother with mild leg weakness at age 82, and a sister with mild leg weakness at age 62.Questions for consideration:

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“…In order to obtain the primer sequences used in the experiments, three articles were used as reference: Boehm et al, 1999;Montagna et al, 2005, andPan et al, 2005. Using softwares to design and analyze primers -Primer3 (http://frodo. wi.mit.edu/primer3/) and NetPrimer (http://www.premierbiosoft.com/netprimer/netprlaunch/netprlaunch.html) -we selected the best primer pairs for this research.…”

Section: Molecular Analysismentioning

confidence: 99%

“…Although this test is highly reliable for diagnosis in males, with only 0.1% affected males showing VLCFA levels in the normal range (Lachtermacher et al, 2000), there is a rate of 15-20% falsenegatives in obligate female carriers (Boehm et al, 1999). Thus, normal plasma levels of VLCFA do not exclude the possibility of a subject being X-ALD heterozygous (Kemp and Wanders, 2007).…”

Section: Introductionmentioning

confidence: 98%