Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxiaReport as inadecuate




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Adrenoleukodystrophy ALD is a rare and progressive neurogenetic disease that may manifest disparate symptoms. The present study aims at investigating the role of ataxic variant of ALD AVALD in patients with adult-onset cerebellar ataxia, as well as characterizing their clinical features that distinguish AVALD from other cerebellar ataxias. Mutations in the ATP binding cassette subfamily D member 1 gene ABCD1 were ascertained in 516 unrelated patients with ataxia. The patients were categorized into three groups: molecularly unassigned hereditary ataxia n = 118, sporadic ataxia with autonomic dysfunctions n = 296, and sporadic ataxia without autonomic dysfunctions n = 102. Brain MRIs were scrutinized for white matter hyperintensity WMH in the parieto-occipital lobes, frontal lobes, corticospinal tracts, pons, middle cerebellar peduncles and cerebellar hemispheres. Two ABCD1 mutations p.S108L and p.P623fs previously linked to cerebral ALD and adrenomyeloneuropathy but not AVALD were identified. ALD accounts for 0.85% 1-118 of the patients with molecularly unassigned hereditary ataxia and 0.34% 1-296 of the patients with sporadic ataxia with autonomic dysfunctions. WMH in the corticospinal tracts and WMH in the cerebellar hemispheres were strongly associated with AVALD rather than other ataxias. To conclude, ALD accounts for approximately 0.39% 2-516 of adult-onset cerebellar ataxias. This study expands the mutational spectrum of AVALD and underscores the importance of considering ALD as a potential etiology of cerebellar ataxia.



Author: Ying-Hao Chen, Yi-Chung Lee, Yu-Shuen Tsai, Yuh-Cherng Guo, Cheng-Tsung Hsiao, Pei-Chien Tsai, Jin-An Huang, Yi-Chu Liao , Bing-W

Source: http://plos.srce.hr/



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