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Epileptic syndrome with myoclonus as manifestation of adult-onset CblC deficiency.

作者信息

Di Giacomo Roberta, Salsano Ettore, Deleo Francesco, Pastori Chiara, Didato Giuseppe, Stabile Andrea, Ferrario Rosalba, Giovagnoli Anna Rita, Benzoni Chiara, Sarro Lidia, Visani Elisa, Canafoglia Laura

机构信息

Epilepsy Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133, Milan, Italy.

Unit of Rare Neurodegenerative and Neurometabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

出版信息

J Neurol. 2022 Sep;269(9):5173-5178. doi: 10.1007/s00415-022-11129-4. Epub 2022 Apr 11.

DOI:10.1007/s00415-022-11129-4
PMID:35403876
Abstract
摘要

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Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists.成人发病型钴胺素 C 缺陷：一种涉及不同成人临床专科的具有挑战性的诊断。
Orphanet J Rare Dis. 2022 Feb 2;17(1):33. doi: 10.1186/s13023-022-02179-y.
2
Cobalamin C Deficiency Induces a Typical Histopathological Pattern of Renal Arteriolar and Glomerular Thrombotic Microangiopathy.钴胺素C缺乏诱导肾小动脉和肾小球血栓性微血管病的典型组织病理学模式。
Kidney Int Rep. 2018 Jun 8;3(5):1153-1162. doi: 10.1016/j.ekir.2018.05.015. eCollection 2018 Sep.
3
Late-onset cobalamin C deficiency Chinese sibling patients with neuropsychiatric presentations.
晚发性钴胺素 C 缺乏症中国同胞兄弟姐妹患者的神经精神表现。
Metab Brain Dis. 2018 Jun;33(3):829-835. doi: 10.1007/s11011-018-0189-3. Epub 2018 Jan 26.
4
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.钴胺素相关再甲基化障碍（cblC、cblD、cblE、cblF、cblG、cblJ和亚甲基四氢叶酸还原酶缺乏症）的诊断与管理指南
J Inherit Metab Dis. 2017 Jan;40(1):21-48. doi: 10.1007/s10545-016-9991-4. Epub 2016 Nov 30.
5
Epilepsy in children with methylmalonic acidemia: electroclinical features and prognosis.甲基丙二酸血症患儿的癫痫：电临床特征与预后
Brain Dev. 2011 Oct;33(9):790-5. doi: 10.1016/j.braindev.2011.06.001. Epub 2011 Jul 20.
6
Cerebral hypermetabolism demonstrated by FDG PET in familial Creutzfeldt-Jakob disease.家族性克雅氏病患者的 FDG PET 显示脑部代谢亢进。
Clin Nucl Med. 2011 Aug;36(8):725-7. doi: 10.1097/RLU.0b013e31821a2604.
7
Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy.早发性甲基丙二酸尿症合并同型胱氨酸尿症 cblC 型伴脱髓鞘神经病。
Pediatr Neurol. 2010 Aug;43(2):135-8. doi: 10.1016/j.pediatrneurol.2010.04.007.
8
The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum.青少年及成人型钴胺素C病：临床与分子谱
J Neurol Neurosurg Psychiatry. 2008 Jun;79(6):725-8. doi: 10.1136/jnnp.2007.133025. Epub 2008 Feb 1.
9
Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.迟发性同型胱氨酸尿症合并甲基丙二酸尿症（cblC型）及神经精神障碍。
Am J Med Genet A. 2007 Oct 15;143A(20):2430-4. doi: 10.1002/ajmg.a.31932.
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Glucose utilization in the inferior cerebellar vermis and ocular myoclonus.小脑蚓部葡萄糖利用与眼肌阵挛
Neurology. 2006 Jul 11;67(1):131-3. doi: 10.1212/01.wnl.0000223837.52895.2e.