線粒體腦肌病

線粒體腦肌病
類型	線粒體肌病、腦病變
分類和外部資源
醫學專科	神經學、風濕病學、內分泌學
ICD-9-CM	277.87
MeSH	D017237
	[編輯此條目的維基數據]

線粒體腦肌病是一種由線粒體的代謝缺陷脫引起的腦肌病，屬於線粒體疾病。此病由Luft於1962年首次採用改良戈莫理氏染色法（Gömöri trichrome stain，MGT）發現。^[1]在活體檢查中，患者的肌肉組織中帶有破碎紅纖維（或不整紅邊纖維，raggedredfiber，RRF）。這種線粒體疾病也可同時累及中樞神經系統引起多種線粒體肌病。

分型[編輯]

線粒體肌病根據臨床不同綜合症可分為幾類：^[2]^[3]

MELAS綜合症（全稱「線粒體腦肌病伴乳酸血症和卒中樣發作綜合症」），症狀包括不同程度的認知障礙及老年痴呆、乳酸酸中毒、中風、短暫性腦缺血發作（transient ischemic attack，TIA）、失聰、運動障礙、體重下降。

MERRF綜合症（全稱「肌陣攣性癲癇發作伴破碎紅纖維」），症狀包括進行性肌陣攣性癲癇（progressive myoclonic epilepsy，PME）、身高較矮，病變的線粒體團塊堆積在肌纖維的肌膜處在利用改良戈莫理氏染色法染色後呈現為破碎的紅斑。.

KSS綜合症（全稱「進行性眼外肌麻痹綜合症」）有時也是線粒體腦肌病的分型，^[4]但在醫學主題詞表（Medical Subject Headings，MeSH）中未將KSS綜合症收錄到該疾病分類中。

參考文獻[編輯]

^ Rolf Luft, Denis Ikkos, Genaro Palmieri, Lars Ernster, and Björn Afzelius. A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study. Journal of Clinical Investigation. Sep 1962, 41 (9): 1776–1804. PMID 14467237. doi:10.1172/JCI104637 （英語）. ^{[永久失效連結]}
^ Melone MA, Tessa A, Petrini S, Lus G, Sampaolo S, di Fede G, Santorelli FM, Cotrufo R. Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype. Archives of Neurology. Feb 2004, 61 (2): 269–272. PMID 14967777. doi:10.1001/archneur.61.2.269 （英語）. ^{[永久失效連結]}
^ Naini AB, Lu J, Kaufmann P, Bernstein RA, Mancuso M, Bonilla E, Hirano M, DiMauro S. Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. Archives of Neurology. Mar 2005, 62 (3): 473–476. PMID 15767514. doi:10.1001/archneur.62.3.473 （英語）. ^{[永久失效連結]}
^ D Crimmins, J G Morris, G L Walker, C M Sue, E Byrne, S Stevens, B Jean-Francis, C Yiannikas, and R Pamphlett. Mitochondrial encephalomyopathy: variable clinical expression within a single kindred. Journal of Neurology, Neurosurgery & Psychiatry. Aug 1993, 56 (8): 900–905. PMC 1015147 . PMID 8350109. doi:10.1136/jnnp.56.8.900 （英語）.

Template:線粒體疾病

[1] Rolf Luft, Denis Ikkos, Genaro Palmieri, Lars Ernster, and Björn Afzelius. A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study. Journal of Clinical Investigation. Sep 1962, 41 (9): 1776–1804. PMID 14467237. doi:10.1172/JCI104637 （英語）. ^{[永久失效連結]}

[2] Melone MA, Tessa A, Petrini S, Lus G, Sampaolo S, di Fede G, Santorelli FM, Cotrufo R. Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype. Archives of Neurology. Feb 2004, 61 (2): 269–272. PMID 14967777. doi:10.1001/archneur.61.2.269 （英語）. ^{[永久失效連結]}

[3] Naini AB, Lu J, Kaufmann P, Bernstein RA, Mancuso M, Bonilla E, Hirano M, DiMauro S. Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. Archives of Neurology. Mar 2005, 62 (3): 473–476. PMID 15767514. doi:10.1001/archneur.62.3.473 （英語）. ^{[永久失效連結]}

[4] D Crimmins, J G Morris, G L Walker, C M Sue, E Byrne, S Stevens, B Jean-Francis, C Yiannikas, and R Pamphlett. Mitochondrial encephalomyopathy: variable clinical expression within a single kindred. Journal of Neurology, Neurosurgery & Psychiatry. Aug 1993, 56 (8): 900–905. PMC 1015147 . PMID 8350109. doi:10.1136/jnnp.56.8.900 （英語）.

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