脊髓性肌萎縮伴進行性肌陣攣性癲癇

脊髓性肌萎縮伴進行性肌陣攣性癲癇
同義詞	Jankovic-Rivera綜合徵
	此種病症為常染色體隱性遺傳病
類型	脊髓性肌萎縮[]、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、常染色體隱性遺傳病[*]
分類和外部資源
醫學專科	神經病學
ICD-9-CM	345.10
OMIM	159950
Orphanet	2590
	[編輯此條目的維基數據]

脊髓性肌萎縮伴進行性肌陣攣性癲癇（spinal muscular atrophy with progressive myoclonic epilepsy，SMA-PME），有時也稱Jankovic-Rivera綜合徵（Jankovic–Rivera syndrome），是一種非常罕見的神經退行性疾病，症狀包括緩慢進行性肌肉萎縮，主要影響遠側肌肉，伴有失神經支配（英語：denervation）和肌陣攣發作^[1]。科學文獻僅載有12個家族患有SMA-PME^[2]。

SMA-PME與ASAH1基因的外顯子2錯義突變（c.125C→T）或刪除有關，為常染色體隱性遺傳^[3]。SMA-PME與一種名為法伯脂肪肉芽腫病的溶酶體疾病密切相關^[4]。與許多遺傳紊亂疾病一樣，SMA-PME尚無治癒方法。

美國研究者Joseph Jankovic和Victor M. Rivera在1979年首次描述了這種病症^[5]。

ASAH1基因

ASAH1基因編碼溶酶體中的酸性神經酰胺酶。溶酶體分解酸性神經酰胺酶，然後利用脂肪酸成分^[6]產生髓磷脂。髓磷脂圍繞在機體神經周圍，有助於信號在神經細胞間的傳遞，並提高傳輸速率^[7]。SMA-PME患者體內神經酰胺酶功能減弱三分之二^[2]。酸性神經酰胺酶分解缺乏導致髓磷脂缺乏，進而導致神經細胞損傷。

另見

脊髓性肌萎縮（英語：Spinal muscular atrophies）
進行性肌陣攣性癲癇（英語：Progressive myoclonus epilepsy）

參考資料

^ 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]. （原始內容存檔於2020-10-01）（英語）.
^ 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 （英語）.
^ 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]. （原始內容存檔於2020-11-11）（英語）.

拓展閱讀

National Institutes of Health. Genetics Home Reference: Spinal muscular atrophy with progressive myoclonic epilepsy. December 2013 [2019-09-21]. （原始內容存檔於2020-10-01）.

外部連結

[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.

[:0-2] 2.0 ^2.1 Reference, Genetics Home. Spinal muscular atrophy with progressive myoclonic epilepsy. Genetics Home Reference. [2018-09-24]. （原始內容存檔於2020-10-01）（英語）.

[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 （英語）.

[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 [2019-09-21]. （原始內容存檔於2020-11-11）（英語）.

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