Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiency.
Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiency.
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DOI：
10.1177/0883073810368137
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发表时间：
2010-12
影响因子：
1.9
通讯作者：
Theodore WH
中科院分区：
文献类型：
--
作者：
Acosta MT;Munasinghe J;Pearl PL;Gupta M;Finegersh A;Gibson KM;Theodore WH
人类琥珀半醛脱氢酶缺乏症是一种γ-氨基丁酸（GABA）分解代谢的常染色体隐性遗传病，用具有共济失调和癫痫表型的小鼠模型进行了建模。对7例患者与对照组进行了体积测量的磁共振成像（MRI），并对3种小鼠基因型进行了体视成像：零型、野生型和杂合突变体。所有患者苍白球T1低、T2高，5例丘脑下、小脑齿状核也有类似改变。病人的小脑蚓有变小的趋势。纯合子小鼠的脑和小脑体积明显低于野生型和杂合子小鼠。体视学证实小脑萎缩，其他多区域正常。小脑体积损失存在于小鼠疾病中，患者有小脑萎缩的趋势。小脑体积缩小可以反映神经退行性变，并可能与临床表现有关。
Human succinic semialdehyde dehydrogenase deficiency, an autosomal recessive disorder of γ-aminobutyric acid (GABA) catabolism, was modeled by a murine model sharing the phenotype of ataxia and seizures. Magnetic resonance imaging (MRI) with volumetry was obtained on 7 patients versus controls, and MRI with stereology was derived in 3 murine genotypes: null, wild-type, and heterozygous mutants. All patients had T1 hypointensity and T2 hyperintensity in globus pallidus, and 5 also had similar changes in subthalamic and cerebellar dentate nuclei. There was a trend for patients to have a smaller cerebellar vermis. Homozygous null mice had significantly lower total brain and cerebellar volumes than wild-types and heterozygotes. Stereology confirmed cerebellar atrophy and was otherwise normal in multiple regions. Cerebellar volume loss is present in the murine disorder with a trend for cerebellar atrophy in patients. Reduced cerebellar volume can reflect neurodegeneration and may be related to the clinical manifestations.
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