A result of a thorough clinical and laboratory study of 27 family members from three generations showed three patients with adrenoleukodystrophy (ALD), one with adrenomyeloneuropathy (AMN) and five females heterozygous for ALD, three of which were psychiatric patients. Four males died at younger age under mysterious circumstances and it is certain that three of them had dark pigment. Based on this information, and on their position in the family tree, it can be presumed that all of them, or three at least, had ALD or AMN. It is necessary to measure very long chain fatty acids level (VLCFA) in the blood of males with Addison's disease in families with ALD or AMN cases, as well as in persons showing signs of demyelinization of white substance followed by progressive neurological symptomatology of unknown cause. All the ALD and AMN patients detected up to now were diagnosed at the Department of Pediatrics, University Hospital Rebro Zagreb. It undoubtedly indicated that there are still a significant number of undetected cases among children and adults in Croatia. In view of the recently provided possibilities of VLCFA level measurements in Croatia, a larger number of detected cases can be expected. Early detection of patients and heterozygotes for ALD, as well as the prenatal diagnostics, enable the families at risk to plan their descendants. Adrenal insufficiency in these patients is very successfully cured with gluco and mineralcorticoid substitution therapy. Unfortunately, there are still no methods of stopping or curing progressive neurological disorders.
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Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy.
Neurol Genet
October 2024
From the Division of Neurology (A.B.K.), Children's National Hospital, George Washington University Medical School, Washington DC; Division of Neurology (A.B.), Neurogenetics Translational Center of Excellence, University of Pennsylvania, Philadelphia; Kennedy Krieger Institute and The Johns Hopkins University School of Medicine (A.F.), Baltimore, MD; Division of Neurology (A.V., L.A.A.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania; Department of Neurology and Pediatrics (K.V.H., J.S.), Lucile Packard Children's Hospital, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology (F.S.E., R.S.), Harvard Medical School, Massachusetts General Hospital, Boston; Department of Pediatric Neurology (M.E.), Amsterdam UMC location, University of Amsterdam, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience, the Netherlands; and Department of Neurology (J.L.O.-M.), University of Pennsylvania, Philadelphia.
Although X-linked adrenoleukodystrophy (ALD) has historically been considered a childhood disease managed by pediatric neurologists, it is one of the most common leukodystrophies diagnosed in adulthood. An increase in both male and female adults reaching diagnosis due to familial cases identified by state newborn screening panels and more widespread use of genetic testing results in a large cohort of presymptomatic or early symptomatic adults. This population is in urgent need of standardized assessments and follow-up care.
View Article and Find Full Text PDF[Adrenal insufficiency as part of X-linked adrenoleukodystrophy].
Probl Endokrinol (Mosk)
December 2023
Article Synopsis
- - X-linked adrenoleukodystrophy (X-ALD) is a serious genetic disorder affecting one in 17,000 newborn boys, often leading to adrenal insufficiency (AI), which can be life-threatening if not treated promptly.
- - A study of 66 male patients diagnosed with primary AI due to X-ALD was conducted in Moscow from 2014 to 2022 to understand the diagnostic and treatment aspects of this condition.
- - The research found that the average age for the first signs of X-ALD was 6.6 years, with AI often detected as early as 1.5 years, showing variations in disease manifestation and age of diagnosis among different forms of X-AL
Burden of illness and mortality in men with Adrenomyeloneuropathy: a retrospective cohort study.
Orphanet J Rare Dis
July 2024
Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Background: Adrenomyeloneuropathy (AMN) is a neurodegenerative disease phenotype of X-linked adrenoleukodystrophy (ALD), resulting in progressive myeloneuropathy causing spastic paraparesis, sensory ataxia, and bowel/bladder symptoms. We conducted a retrospective cohort study using two large administrative databases to characterize mortality and the burden of illness in adult men with AMN in the US.
Results: Healthcare resource use was assessed using a national commercial insurance claims database (2006-2021).
X-adrenoleukodystrophy (X-ALD) is a peroxisomal metabolic disorder caused by mutations in the ABCD1 gene encoding the peroxisomal ABC transporter adrenoleukodystrophy protein (ALDP). Similar mutations in ABCD1 may result in a spectrum of phenotypes in males with slow progressing adrenomyeloneuropathy (AMN) and fatal cerebral adrenoleukodystrophy (cALD) dominating the majority of cases. Mouse model of X-ALD does not capture the phenotype differences and an appropriate model to investigate mechanism of disease onset and progress remains a critical need.
View Article and Find Full Text PDFA novel ABCD1 gene mutation causes adrenomyeloneuropathy presenting with spastic paraplegia: A case report.
Medicine (Baltimore)
April 2024
Department of Neurology, China-Japan Union Hospital of Jilin University, Changchun, China.
Rationale: X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene leading to very long chain fatty acid (VLCFA) accumulation. The disease demonstrates a spectrum of phenotypes including adrenomyeloneuropathy (AMN). We aimed to identify the genetic basis of disease in a patient presenting with AMN features in order to confirm the diagnosis, expand genetic knowledge of ABCD1 mutations, and elucidate potential genotype-phenotype associations to inform management.
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