Severe 5,10‐methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia

Perna A.; Masciullo M.; Modoni A.; Cellini E.; Parrini E.; Ricci E.; Donati A. M.; Silvestri G.

首页> 外文期刊>European journal of neurology: the official journal of the European Federation of Neurological Societies >Severe 5,10‐methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia

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Severe 5,10‐methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia

机译：严重的5,10-甲基四乙烯酸还原酶缺乏：复杂的遗传性痉挛性截瘫复杂，可治疗的病因

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Background and purpose Juvenile‐ or adult‐onset forms of severe 5,10‐methylenetetrahydrofolate reductase ( MTHFR ) deficiency manifesting as complicated hereditary spastic paraplegia have rarely been described. Methods Two siblings with mental retardation developed a progressive spastic paraparesis in their late teens. Their diagnostic assessment included extensive neurophysiologic, neuroimaging and metabolic studies. Results Brain magnetic resonance imaging showed occipital white matter alterations, and electromyography documented a mixed polyneuropathy. Severe hyperhomocisteinemia (150?μmol/L) associated with the characteristic amino acid profile suggested a diagnosis of severe MTHFR deficiency, confirmed by MTHFR direct sequencing. Treatment with betaine and vitamins benefitted patients' symptoms and diagnostic features. Conclusions Severe MTHFR deficiency can be a rare, treatable cause of autosomal recessive complicated hereditary spastic paraplegia. Its screening should be part of the diagnostic flowchart for these disorders.

机译：背景论和目的的幼年或成人生病形式的严重5,10-甲基四乙酸盐还原酶（MTHFR）缺乏表现为复杂的遗传痉挛性痉挛截瘫。方法两种患有精神发育迟滞的兄弟姐妹在青少年后期开发了渐进式痉挛性痉挛。它们的诊断评估包括广泛的神经生理学，神经影像学和代谢研究。结果脑磁共振成像显示枕骨白质改变，肌电学记录记录了混合的多变病变。与特征氨基酸分布相关的严重的高核细胞症（＆ 150？μmol/ L）表明，由MTHFR直接测序证实严重MTHFR缺乏的诊断。用甜菜碱治疗和维生素受益患者的症状和诊断特征。结论严重的MTHFR缺乏可以是常染色体隐性复杂遗传性痉挛性痉挛性截瘫患者的罕见，可治疗的原因。其筛选应成为这些疾病的诊断流程图的一部分。

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《European journal of neurology: the official journal of the European Federation of Neurological Societies》 |2018年第3期|共4页
作者
Perna A.; Masciullo M.; Modoni A.; Cellini E.; Parrini E.; Ricci E.; Donati A. M.; Silvestri G.;
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作者单位

Institute of NeurologyCatholic University of Sacred Heart (UCSC)Rome;

IRCSS Santa LuciaRome;

Institute of NeurologyCatholic University of Sacred Heart (UCSC)Rome;

Laboratory of NeurogeneticsA. Meyer Children's HospitalFlorence;

Laboratory of NeurogeneticsA. Meyer Children's HospitalFlorence;

Institute of NeurologyCatholic University of Sacred Heart (UCSC)Rome;

Metabolic and Neuromuscular UnitA. Meyer Children's HospitalFlorence Italy;

Institute of NeurologyCatholic University of Sacred Heart (UCSC)Rome;

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正文语种 eng
中图分类神经病学;
关键词
betain; cerebral white matter disease; complicated hereditary spastic paraplegia; hyperhomocysteinemia; severe 5; 10‐methylenetetrahydrofolate reductase deficiency;

机译：β;脑白质疾病;复杂的遗传性痉挛性截瘫;高管囊肿;严重5;10-亚甲基四乙烯酸还原酶缺乏;

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1. Severe 5,10‐methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia [J] . Perna A., Masciullo M., Modoni A., European journal of neurology: the official journal of the European Federation of Neurological Societies . 2018,第3期

机译：严重的5,10-甲基四乙烯酸还原酶缺乏：复杂的遗传性痉挛性截瘫复杂，可治疗的病因
2. Adult-onset severe methylenetetrahydrofolate reductase deficiency characterized by reversible spastic paraplegia with a novel mutation [J] . Lin Nan, Jiang Nan, Dai Yi, Neurological sciences . 2016,第10期

机译：成人发病的严重亚甲基四氢叶酸还原酶缺乏症，特征在于可逆性痉挛性截瘫，具有新的突变
3. A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency [J] . Salam Massadeh, Muhammad Umair, Manal Alaamery, Frontiers in Neurology . 2019,第2016期

机译：MTHFR催化域中的新型纯合无义突变导致严重的5,10-亚甲基四氢叶酸还原酶缺乏症。
4. Analysis of Test-Retest Repeatability of Gait Analysis Parameters in Hereditary Spastic Paraplegia [C] . Armando Coccia, Federica Amitrano, Pietro Balbi, IEEE International Symposium on Medical Measurements and Applications . 2021

机译：遗传痉挛性截瘫术中的步态分析参数的试验 - 重复性分析
5. Development and Manipulation of a Drosophila Model for Toxic Effects of Mutated M1 Spastin in Hereditary Spastic Paraplegia Treatment [D] . Yiantsos, Ioanna. 2019

机译：果蝇突变M1 Spastin在遗传性痉挛性截瘫治疗中毒性作用的果蝇模型的开发和操纵。
6. Swimming in Deep Water: Zebrafish Modeling of Complicated Forms of Hereditary Spastic Paraplegia and Spastic Ataxia [O] . Valentina Naef, Serena Mero, Gianluca Fichi, 2019

机译：深水中的游泳：斑马鱼模拟复杂形式的遗传性痉挛性截瘫和痉挛性共济失调
7. Severe 5,10‐Methylenetetrahydrofolate reductase deficiency: A rare, treatable cause of complicated hereditary spastic paraplegia [O] . D. Dave, F. Khan, S. Rohatgi, 2019

机译：严重的5,10-甲基四乙烯酸还原酶缺乏：复杂的遗传性痉挛性截瘫复杂，可治疗原因

Severe 5,10‐methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia

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