脊髓性肌萎缩伴进行性肌阵挛性癫痫
| 脊髓性肌萎缩伴进行性肌阵挛性癫痫 | |
|---|---|
| 又称 | Jankovic-Rivera综合征 |
 | |
| 此种病症为常染色体隐性遗传病 | |
| 类型 | 脊髓性肌萎缩[*]、myoclonic epilepsy[*]、genetic motor neuron disease[*]、progressive epilepsy and/or ataxia with myoclonus as a major feature[*]、脊髓性肌肉萎縮症、常染色体隐性遗传病[*] |
| 分类和外部资源 | |
| 醫學專科 | 神经病学 |
| ICD-9-CM | 345.10 |
| OMIM | 159950 |
| Orphanet | 2590 |
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，伴有失神经支配和肌阵挛發作[1]。科学文献仅载有12个家族患有SMA-PME[2]。
SMA-PME与ASAH1基因的外显子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
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
参考资料
- ^ 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.
- ^ 2.0 2.1 Reference, Genetics Home. Spinal muscular atrophy with progressive myoclonic epilepsy. Genetics Home Reference. [2018-09-24]. （原始内容存档于2020-10-01） （英语）.
- ^ 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.
- ^ 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）.
- ^ 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.
- ^ 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.
- ^ Morell, Pierre; Quarles, Richard H. The Myelin Sheath. Basic Neurochemistry: Molecular, Cellular and Medical Aspects. 6th Edition. 1999 [2019-09-21]. （原始内容存档于2020-11-11） （英语）.
拓展阅读
- National Institutes of Health. Genetics Home Reference: Spinal muscular atrophy with progressive myoclonic epilepsy. December 2013 [2019-09-21]. （原始内容存档于2020-10-01）.
