Uncini A, Lodi R, Di Muzio A, Silvestri G, Servidei S, Lugaresi A, Iotti S, Zaniol P, Barbiroli B
Center for Neuromuscular Diseases, University of Chieti, Italy.
J Neurol Sci. 1995 Apr;129(2):214-22. doi: 10.1016/0022-510x(94)00283-t.
Familial hemiplegic migraine (FHM) is a rare autosomal dominant disorder of unknown pathogenesis characterized by migraine and transitory hemiplegic attacks. We describe a kindred fulfilling the diagnostic criteria for FHM in which: (1) brain phosphorus magnetic resonance spectroscopy (31P-MRS) showed a reduced phosphocreatine content accompanied by high [ADP], high percentage of V/Vmax of ATP biosynthesis and decreased phosphorylation potential; (2) muscle 31P-MRS showed a reduced rate of phosphocreatine recovery after exercise; (3) blood lactate was increased after effort; (4) muscle biopsy showed, in one patient, rare ragged red fibers succinate-dehydrogenase positive and cytochrome c oxidase negative; (5) genetic analysis of muscle mitochondrial DNA did not show any of the two point mutations in the tRNA(Leu(UUR)) associated with the MELAS syndrome (Mitochondrial myopathy, Encephalopathy with Lactic Acidosis and Stroke-like episodes). The defective energy metabolism of brain and muscle found in this pedigree suggests a multisystemic disorder of mitochondrial function in this FHM pedigree.
家族性偏瘫性偏头痛（FHM）是一种罕见的常染色体显性疾病，发病机制不明，其特征为偏头痛和短暂性偏瘫发作。我们描述了一个符合FHM诊断标准的家系，其中：（1）脑磷磁共振波谱（31P-MRS）显示磷酸肌酸含量降低，同时伴有高[ADP]、ATP生物合成的V/Vmax百分比升高以及磷酸化电位降低；（2）肌肉31P-MRS显示运动后磷酸肌酸恢复速率降低；（3）运动后血乳酸升高；（4）肌肉活检显示，在一名患者中，罕见的琥珀酸脱氢酶阳性和细胞色素c氧化酶阴性的破碎红纤维；（5）肌肉线粒体DNA的基因分析未显示与MELAS综合征（线粒体肌病、脑病伴乳酸酸中毒和卒中样发作）相关的tRNA(Leu(UUR))中的两个点突变中的任何一个。在这个家系中发现的脑和肌肉能量代谢缺陷提示该FHM家系存在线粒体功能的多系统紊乱。
