脊髓性肌萎缩伴进行性肌阵挛性癫痫

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脊髓性肌萎缩伴进行性肌阵挛性癫痫
同義詞 Jankovic-Rivera综合征
Autosomal recessive - en.svg
此种病症为常染色体隐性遗传病
醫學專科 神经病学

脊髓性肌萎缩伴进行性肌阵挛性癫痫(spinal muscular atrophy with progressive myoclonic epilepsy,SMA-PME),有时也称Jankovic-Rivera综合征(Jankovic–Rivera syndrome),是一种非常罕见的神经退行性疾病,症状包括缓慢进行性肌肉萎缩,主要影响远侧肌肉,伴有失神经支配英语denervation肌阵挛英语myoclonic發作[1]。科学文献仅载有12个家族患有SMA-PME[2]

SMA-PME与ASAH1基因外显子2錯義突變(c.125C→T)或刪除有关,为常染色体隐性遗传[3]。SMA-PME与一种名为法伯脂肪肉芽肿病的溶酶体疾病密切相关[4]。与许多遗传紊乱疾病一样,SMA-PME尚无治愈方法。

美国研究者Joseph Jankovic和Victor M. Rivera在1979年首次描述了这种病症[5]

ASAH1基因[编辑]

ASAH1基因编码溶酶体中的酸性神经酰胺酶。溶酶体分解酸性神经酰胺酶,然后利用脂肪酸成分[6]产生髓磷脂。髓磷脂围绕在机体神经周围,有助于信号在神经细胞间的传递,并提高传输速率[7]。SMA-PME患者体内神经酰胺酶功能减弱三分之二[2]。酸性神经酰胺酶分解缺乏导致髓磷脂缺乏,进而导致神经细胞损伤。

另见[编辑]

参考资料[编辑]

  1. ^ Haliloglu, G.; Chattopadhyay, A.; Skorodis, L.; Manzur, A.; Mercuri, E.; Talim, B.; Akçören, Z.; Renda, Y.; Muntoni, F.; Topaloğlu, H. Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy: Report of New Cases and Review of the Literature. Neuropediatrics. 2002, 33 (6): 314–319. PMID 12571787. doi:10.1055/s-2002-37087. 
  2. ^ 2.0 2.1 Reference, Genetics Home. Spinal muscular atrophy with progressive myoclonic epilepsy. Genetics Home Reference. [2018-09-24] (英语). 
  3. ^ Zhou, J.; Tawk, M.; Tiziano, F. D.; Veillet, J.; Bayes, M.; Nolent, F.; Garcia, V.; Servidei, S.; Bertini, E.; Castro-Giner, F.; Renda, Y.; Carpentier, S. P.; Andrieu-Abadie, N.; Gut, I.; Levade, T.; Topaloglu, H.; Melki, J. Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy is Caused by Mutations in ASAH1. The American Journal of Human Genetics. 2012, 91 (1): 5–14. PMC 3397266. PMID 22703880. doi:10.1016/j.ajhg.2012.05.001. 
  4. ^ Gan, Joanna J.; Garcia, Virginie; Tian, Jane; Tagliati, Michele; Parisi, Joseph E.; Chung, Jeffrey M.; Lewis, Richard; Baloh, Robert; Levade, Thierry; Pierson, Tyler Mark. Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy. Neuromuscular Disorders. 2015-12-01, 25 (12): 959–963. ISSN 0960-8966. PMID 26526000. doi:10.1016/j.nmd.2015.09.007 (英语). 
  5. ^ Jankovic, J.; Rivera, V. M. Hereditary myoclonus and progressive distal muscular atrophy. Annals of Neurology. 1979, 6 (3): 227–231. PMID 534421. doi:10.1002/ana.410060309. 
  6. ^ Park, Jae-Ho; Schuchman, Edward H. Acid ceramidase and human disease. Biochimica et Biophysica Acta. December 2006, 1758 (12): 2133–2138. ISSN 0006-3002. PMID 17064658. doi:10.1016/j.bbamem.2006.08.019. 
  7. ^ Morell, Pierre; Quarles, Richard H. The Myelin Sheath. Basic Neurochemistry: Molecular, Cellular and Medical Aspects. 6th Edition. 1999 (英语). 

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