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首页> 外文期刊>Iranian Journal of Neurology >Transcranial sonography in carriers of Gaucher disease
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Transcranial sonography in carriers of Gaucher disease

机译：高彻病携带者的经颅超声检查

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Background: Glucocerebrosidase (GBA) mutation is the most common genetic risk factor in Parkinson’s disease (PD). Transcranial sonography (TCS) shows increased substantia nigra (SN) echogenicity in both idiopathic and genetic forms of PD. The goal of this study was to compare maximal area of SN hyperechogenicity (aSNmax) and diameter of third ventricle (DTV) between GBA mutation carriers and healthy controls. Methods: Twenty-six carriers of GBA mutation and twenty-six healthy controls underwent TCS. The aSNmax and the DTV were measured. Mini-mental status examination (MMSE) and demographic data of the subjects were recorded, too. Results: Mean aSNmax in GBA mutation carriers was significantly higher (0.31 ± 0.06 cm2) than controls (0.16 ± 0.04 cm2). Moreover, DTV was significantly higher in GBA mutation carriers group (3.98 ± 0.90 vs 3.29 ± 0.56 cm). Conclusion: Increased SN echogenicity and increased third ventricle diameter in GBA mutation carriers may be caused by alterations in iron metabolism with reference to their genetic status.
机译：背景：葡糖脑苷脂酶（GBA）突变是帕金森氏病（PD）中最常见的遗传危险因素。经颅超声检查（TCS）显示，PD的特发性和遗传形式都增加了黑质（SN）回声。这项研究的目的是比较GBA突变携带者和健康对照之间的最大SN超回声能力（aSNmax）和第三心室（DTV）直径。方法：对26名GBA突变携带者和26名健康对照者进行了TCS。测量了aSNmax和DTV。还记录了受试者的迷你心理状态检查（MMSE）和人口统计学数据。结果：GBA突变携带者的平均aSNmax显着高于对照组（0.16±0.04 cm2）（0.31±0.06 cm2）。此外，GBA突变携带者组的DTV显着更高（3.98±0.90 vs 3.29±0.56 cm）。结论：GBA突变携带者的SN回声增加和第三脑室直径的增加可能是由于铁代谢的遗传状态改变引起的。

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