Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: A clinical, biochemical and genetic study
Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: A clinical, biochemical and genetic study
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DOI：
10.1016/j.nmd.2012.05.007
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发表时间：
2012-12-01
影响因子：
2.8
通讯作者：
Bertini, Enrico
中科院分区：
文献类型：
--
作者：
Ciccolella, Marianna;Catteruccia, Michela;Bertini, Enrico
Brown-Vialetto-货车Laere（BVVL）和Fazio-Londe（FL）是罕见的临床重叠运动神经元综合征。最近，BVVL与C20 orf 54/hRFT 2突变和核黄素转运缺陷有关。我们比较了6例患者（年龄范围11-17岁）的临床和实验室特征，具有BVVL和FL重叠综合征的特征。对患者进行了以下评估：血液核黄素水平和氧化还原状态，电生理，神经放射学和肺部研究，ALS功能评定量表和分子遗传学分析。第三例患者在静脉注射免疫球蛋白（IVIG）后明显改善，但随后复发，对治疗无反应;他没有耳聋，但有异常的听觉诱发反应（BAER）。其余3例无耳聋，但同样表现为亚急性进行性桥脑延髓麻痹。我们在3/6例表现为耳聋或BAER异常的患者中发现hRFT 2突变。没有患者血液中核黄素水平降低。然而，补充核黄素（10 mg/kg/天）后，受影响最严重的BVVL患者在治疗8个月后停止了症状进展。BVVL和FL是具有重叠症状的严重进行性疾病，尽管仅hRFT 2突变患者表现耳聋。核黄素补充似乎稳定和改善疾病的进展。(C)2012爱思唯尔有限公司版权所有。
Brown-Vialetto-van Laere (BVVL) and Fazio-Londe (FL) are rare and clinically overlapping motor neurons syndromes. Recently BVVL has been associated with mutations in C20orf54/hRFT2 and defective riboflavin transport. We compared clinical and laboratory features of 6 patients (age range 11-17 years), with features of BVVL and FL overlap syndromes. Patients were assessed as following: blood levels of riboflavin and redox status, electrophysiological, neuroradiological and pulmonary studies, ALS functional rating scale and molecular genetic analysis.Two patients manifested deafness at ages of 3 and 10 years, and developed later subacute progressive ponto-bulbar palsy. A third patient markedly improved after intravenous immunoglobulins (IVIG), but then relapsed remaining unresponsive to treatment; he was not deaf although had abnormal auditory evoked responses (BAERs). The remaining 3 patients had no deafness, although likewise manifested subacute progressive ponto-bulbar palsy. We found hRFT2 mutations in 3/6 patients manifesting deafness or abnormal BAERs. No patient had reduced riboflavin blood levels. However, on riboflavin supplementation (10 mg/kg/day) the most severely affected BVVL patient stopped progression of symptoms following 8 months of treatment. BVVL and FL are severe progressive diseases with overlapping symptoms although only hRFT2 mutated patients manifest deafness. Riboflavin supplementation seems to stabilize and improve progression of the disease. (C) 2012 Elsevier B.V. All rights reserved.