7T MRI detects widespread brain iron deposition in neuroferritinopathy
7T MRI detects widespread brain iron deposition in neuroferritinopathy
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DOI：
10.1002/acn3.52053
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发表时间：
2024-04-01
影响因子：
5.3
通讯作者：
Chinnery，Patrick F.
中科院分区：
文献类型：
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作者：
Murley，Alexander G.;Rua，Catarina;Chinnery，Patrick F.
神经铁蛋白病是一种神经退行性疾病，伴有脑铁蓄积，目前尚无经证实的改善疾病的治疗方法。临床试验需要铁沉积的生物标志物。我们使用超高场7T MRI检查了一名症状前FTL突变携带者、两名神经铁蛋白病患者和一名健康对照者的脑铁蓄积。在症状前和症状性神经铁蛋白病的浅表和深部灰质中，磁化率增加，提示铁沉积。壳核和苍白球的空洞随着疾病分期和随访而增加。症状前和早期疾病中广泛的脑铁沉积为监测疾病改善干预提供了机会。
Neuroferritinopathy is a disorder of neurodegeneration with brain iron accumulation that has no proven disease‐modifying treatments. Clinical trials require biomarkers of iron deposition. We examined brain iron accumulation in one presymptomaticFTLmutation carrier, two individuals with neuroferritinopathy and one healthy control using ultra‐high‐field 7T MRI. There was increased magnetic susceptibility, suggestive of iron deposition, in superficial and deep gray matter in both presymptomatic and symptomatic neuroferritinopathy. Cavitation of the putamen and globus pallidus increased with disease stage and at follow up. The widespread brain iron deposition in presymptomatic and early disease provides an opportunity for monitoring disease‐modifying intervention.