Abstract
BackgroundAdrenoleukodystrophy is a rare neurogenetic disease, AMN is the most common adult phenotype, such patients in China have not gotten enough attention. This article aims to study the features of AMN in Chinese patients and expand the gene spectrum of Chinese X-linked adrenoleukodystrophy (X-ALD) patients.MethodsWe applied clinical analysis, radiology, plasma levels of very long chain fatty acids (VLCFA) and genetic analysis to test the 6 Chinese AMN patients.ResultsAll 6 patients are men. Ages of neurological symptom onset are distributed between 21 and 38. Sexual dysfunction occurred in 5 of 6 patients. Three patients had positive family history. Five patients had Addison’s disease. Four patients were diagnosed as pure AMN, while the other two patients were with cerebral involvement. Four patients had abnormalities of nerve conduction studies. There were four patients with central conduction defects in somatosensory evoked potential tests. All 6 patients were found diffuse cord atrophy in spinal MRI. Brain MRI showed abnormal signals in 2 of the 6 tested patients, which indicated the clinical phenotypes. Plasma levels of VLCFA, as well as C24:0/C22:0 and C26:0/C22:0 ratios were elevated in 5 tested patients. Five different ABCD1 mutations were identified in 5 tested patients, one of which was a de novo mutation, and the other four have been reported previously.ConclusionThis research described the clinical, neuroimaging, biochemical, and genetic sides of Chinese AMN patients. A de novo mutation in the ABCD1 gene sequence was identified. Emotional trauma may trigger or aggravate the development of cerebral demyelination in AMN patients. Regular evaluation of brain MRI is important for AMN patients, especially for ‘pure AMN’ patients. When encountering patients with ‘myeloneuropathy-only’, neurologists should not ignore the tests of VLCFA or/and the ABCD1 gene.
Highlights
Adrenoleukodystrophy is a rare neurogenetic disease, AMN is the most common adult phenotype, such patients in China have not gotten enough attention
With a mean follow-up of 10 years, study showed that nearly 19% of patients with pure AMN developed into cerebral demyelination [10]
Patients meeting the following two inclusion criteria were enrolled according to case histories: (a) Adult onset with spastic paraparesis, (b) cases with mutations of the ATP binding cassette subfamily D member 1 (ABCD1) gene or/and increased plasma levels of very long chain fatty acids (VLCFA), the proportions of C24:0/C22:0 and C26:0/C22:0
Summary
Adrenoleukodystrophy is a rare neurogenetic disease, AMN is the most common adult phenotype, such patients in China have not gotten enough attention. This article aims to study the features of AMN in Chinese patients and expand the gene spectrum of Chinese X-linked adrenoleukodystrophy (X-ALD) patients. Childhood cerebral ALD and AMN are the two most common forms of ALD, while these two phenotypes have different clinical and pathological characteristics. With a mean follow-up of 10 years, study showed that nearly 19% of patients with pure AMN developed into cerebral demyelination [10]. This threat can diminish significantly with age especially after 45 [11]. The present research focuses on surveying the features of clinical, biochemical, neuroimaging and genetic information with Chinese AMN patients
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