Motor Neuron Syndrome as a New Phenotypic Manifestation of Mutation 9185T>C in Gene MTATP6.
Motor Neuron Syndrome as a New Phenotypic Manifestation of Mutation 9185T>C in Gene MTATP6.
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DOI：
10.1155/2014/701761
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发表时间：
2014
影响因子：
0.9
通讯作者：
Pinto Marques J
中科院分区：
文献类型：
--
作者：
Brum M;Semedo C;Guerreiro R;Pinto Marques J
背景资料。与Leigh综合征相关的ATP6基因9185T和GT；C突变在少数家系中被报道。运动神经元病(MND)，无论是临床上还是电生理学上，以前都没有与这种突变相关的描述。案件报告。33岁男性，有线粒体疾病家族史，表现为认知障碍、运动不耐受和进行性肌肉无力。检查发现全身性低眼压和近端四肢瘫痪，无萎缩或束状、锥体体征或感觉症状。实验室结果显示乳酸和乳酸/丙酮酸比值升高；肌电显示慢性神经源性损害；肌肉活检提示脊髓性肌萎缩和线粒体病；SMN1的遗传学研究为阴性，但检测到ATP6基因的同质突变9185T和GT；C。他的妹妹，有相同的突变，有认知障碍，共济失调和肌肉无力。肌电图显示轴索周围神经病变。结论。此病例是独特的，因为临床、神经生理学和病理结果提示MND是良性的和共存的，虽然在线粒体疾病中有描述，但尚未报告与9185T和GT；C突变有关的病例。目前的情况有助于这种特殊突变的表型表达的扩大。
Background. The mutation 9185T>C in ATP6 gene, associated with Leigh syndrome, was reported in only few families. Motor neuron disease (MND), both clinically and electrophysiologically, was not previously described in association with this mutation. Case Report. 33-year-old male, with family history of mitochondrial disease, presented with cognitive impairment, exercise intolerance, and progressive muscle weakness. Examination revealed global hypotonia, and proximal tetraparesis, without atrophy or fasciculation, pyramidal signs, or sensory symptoms. The laboratory findings revealed an increase of lactate and lactate/pyruvate ratio; electromyogram showed chronic neurogenic compromise; muscle biopsy was suggestive of spinal muscular atrophy and mitochondriopathy; genetic study of SMN1 was negative but detected a homoplasmic mutation 9185T>C in ATP6 gene. His younger sister, with the same mutation, had cognitive impairment, ataxia, and muscle weakness. EMG showed axonal peripheral neuropathy. Conclusion. This case is unique because of the benignity and the coexistence of clinical, neurophysiological, and pathological findings suggestive of MND that, although described in mitochondrial disease, have not yet been reported in association with 9185T>C mutation. The present case contributes to the expansion of the phenotypic expressions of this particular mutation.
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DOI：
10.1136/jnnp-2012-302568
发表时间：
2012-09
期刊：
Journal of neurology, neurosurgery, and psychiatry
影响因子：
--
作者：
Pfeffer G;Blakely EL;Alston CL;Hassani A;Boggild M;Horvath R;Samuels DC;Taylor RW;Chinnery PF
通讯作者：
Chinnery PF
影响因子：
9.9
作者：
Wolf, NI;Smeitink, JAM
通讯作者：
Smeitink, JAM
影响因子：
1.2
作者：
Finsterer, J
通讯作者：
Finsterer, J
影响因子：
3.8
作者：
Lee, Hsiu-Fen;Tsai, Chi-Ren;Chen, Clayton Chi-Chang
通讯作者：
Chen, Clayton Chi-Chang
影响因子：
4.4
作者：
Saneto, Russell P.;Singh, Keshav K.
通讯作者：
Singh, Keshav K.