A novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review

Zhang, Yu; Zhang, Guoyong; Chen, Wenhui; Zheng, Ping; Song, Lu; Tang, Xiaolin; Liu, Zhenguo

doi:10.1016/j.gendis.2020.01.009

Cited by 4 publications

(2 citation statements)

References 31 publications

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“…A summary of all the AMN cases reported worldwide between 1975 and 2019 found that the mutations most frequently occurred in exon 1 of the ABCD1 gene, and most of them were missense mutations. [2] Genetic testing of our patient revealed a nucleotide mutation in exon 1 of the ABCD1 gene with a change from C to T in the coding region 761 (Fig. 3A), which resulted in a missense mutation in the amino acid 254 from threonine to methionine.…”

Section: Discussionmentioning

confidence: 98%

Adrenomyeloneuropathy manifesting as adrenal insufficiency and bilateral lower extremity spastic paraplegia: A case report and literature review

Chen,

Li,

et al. 2024

Medicine

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Rationale: Adrenomyeloneuropathy (AMN) is a variant type of X-linked adrenoleukodystrophy, and it is a genetic metabolic disease with strong clinical heterogeneity so that it is easily misdiagnosed and underdiagnosed. Moreover, most patients with AMN have an insidious clinical onset and slow progression. Familiarity with the pathogenesis, clinical features, diagnosis, and treatment of AMN can help identify the disease at an early stage. Patient concerns: We present a case of 35-year-old male, who was admitted to our hospital due to “immobility of the lower limbs for 2 years and worsening for half a year,” accompanied by skin darkening and hyperpigmentation of lips, oral mucosa, and areola since puberty. Diagnosis: The level of very long-chain fatty acids was high and genetic testing depicted that exon 1 of the ABCD1 gene had a missense mutation of C.761c>T, which was diagnosed as AMN. Interventions: Baclofen was administered to improve muscle tension combined with glucocorticoid replacement therapy. Outcomes: The condition was relieved after half a year. Lessons: The clinical manifestations of AMN are diverse. When patients with adrenocortical dysfunction complicated with progressive spastic paraplegia of lower limbs are involved, AMN should be highly suspected, and the determination of very long-chain fatty acids and genetic testing should be performed as soon as possible to confirm the diagnosis because early treatment can help prevent or delay the progression of the disease.

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Section: Discussionmentioning

confidence: 98%

Adrenomyeloneuropathy manifesting as adrenal insufficiency and bilateral lower extremity spastic paraplegia: A case report and literature review

Chen,

Li,

et al. 2024

Medicine

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“…(3) AMN is characterized by a chronic progressive axonopathy affecting sensory ascending and motor descending spinal cord tracts, leading to progressive spastic paraparesis, peripheral neuropathy, ataxia, sphincter incontinence, and sexual dysfunction, sometimes accompanied by adrenal insu ciency. (3)(4)(5)(6) There are currently no effective treatments for preventing, stabilizing, or reversing AMN progression.…”

Section: Introductionmentioning

confidence: 99%

Burden of Illness and Mortality in Men with Adrenomyeloneuropathy: A Retrospective Cohort Study

Bonkowsky,

Healey,

Sacks

et al. 2024

Preprint

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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). Males with AMN ages 18-64 years and no evidence of cerebral ALD or other peroxisomal disorders were included and 1:4 matched on demographic characteristics to individuals without AMN. All study participants were followed for as long as observable. Patients with AMN were also identified in the Medicare Limited Dataset (2017-2022); mortality and age at death were compared with all Medicare enrollees. We identified 303 commercially insured men with AMN. Compared with non-AMN, individuals with AMN had significantly more inpatient hospital admissions (0.44 vs. 0.04 admissions/patient/year), outpatient clinic (8.88 vs. 4.1 visits/patient/year), outpatient hospital (5.33 vs. 0.99), and home healthcare visits (4.66 vs. 0.2 visits/patient/year), durable medical equipment claims (0.7 vs. 0.1 claims/patient/year), and prescription medication fills (18.1 vs. 5.4 fills/patient/year) (all p<0.001). Average length-of-stay per hospitalization was also longer in AMN (8.88 vs. 4.3 days; p<0.001). Rates of comorbidities were significantly more common in AMN compared to controls, including peripheral vascular disease (4.6% vs. 0.99%), chronic pulmonary disease (6.3% vs. 2.6%), and liver disease (5.6% vs. 0.88%), all p<0.001. Among individuals age <65 with Medicare disability 1coverage, mortality rates were 5.3x higher for adult AMN males (39.3% vs. 7.4%) and the age at death significantly younger (47.0±11.3 vs. 56.5±7.8 years), both p<0.001. Among Medicare beneficiaries ages ≥65 mortality rates were 2.2x higher for men with AMN vs. those without AMN (48.6% vs. 22.4%), p<0.001. CONCLUSION: AMN imposes a substantial and underrecognized health burden on men, with higher healthcare utilization, greater medical comorbidity, higher mortality rates, and younger age at death.

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X-linked cerebral adrenoleukodystrophy

Weldrick,

Boers,

Kiely

et al. 2023

BMJ Case Rep

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A man in his 30s presented with a 6-month history of progressive left face, arm and leg weakness. Medical history included epilepsy and vitamin B12deficiency. Three maternal second degree relatives died before the age of 7 from various neurological disorders. Examination revealed a mild left facial droop and weakness of the left shoulder, hip and ankle. Reflexes were symmetrical and tone was normal. Differential diagnosis included glioma, subacute infarction, lymphoma and demyelination. MRI brain showed an extensive right sided subcortical white matter lesion, with extension into the brainstem. The patient’s weakness progressed over 3 months. Brain biopsy showed evidence of demyelination and gliosis. A pathological diagnosis of tumefactive multiple sclerosis was made, but also rare metabolic disorders such as X-linked adrenoleukodystrophy (X-ALD) were proposed. Serum very long-chain fatty acids were significantly elevated. Genetic testing showed a mutation in theABCD1gene, confirming a diagnosis of X-ALD.

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A novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review

Cited by 4 publications

References 31 publications

Adrenomyeloneuropathy manifesting as adrenal insufficiency and bilateral lower extremity spastic paraplegia: A case report and literature review

Adrenomyeloneuropathy manifesting as adrenal insufficiency and bilateral lower extremity spastic paraplegia: A case report and literature review

Burden of Illness and Mortality in Men with Adrenomyeloneuropathy: A Retrospective Cohort Study

X-linked cerebral adrenoleukodystrophy

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