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首页> 外文期刊>European neurology >Purkinje cell loss in the cerebellar flocculus in patients with ataxia with ocular motor apraxia type 1/early-onset ataxia with ocular motor apraxia and hypoalbuminemia.
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Purkinje cell loss in the cerebellar flocculus in patients with ataxia with ocular motor apraxia type 1/early-onset ataxia with ocular motor apraxia and hypoalbuminemia.

机译：1型眼运动失用型共济失调/眼运动失用及低白蛋白血症的早发性共济失调患者小脑絮状部Purkinje细胞丢失。

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摘要

We genetically screened patients with ataxia with ocular motor apraxia type 1 (AOA1)/early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH), with a Japanese variant form of Friedreich's ataxia. Three patients were found to have a homozygous insertion mutation of the aprataxin gene (689insT). An elder sister of a patient in this series died of cerebral hemorrhage at the age of 45, and underwent autopsy. In her cerebellar cortex, the mean density of Purkinje cells in the flocculus had predominantly decreased to 6.7% of normal controls, whereas the Purkinje cells in the other areas of the cerebellar hemisphere had decreased to 78.2%. This suggests that the cerebellar flocculus is the primary affected lesion in AOA1/EAOH, which should be associated with ocular motor apraxia.
机译：我们通过遗传学筛选了1型眼运动失用型共济失调患者（AOA1）/眼运动失用和低白蛋白血症（EAOH）的初发性共济失调，其中日本人形式为弗里德里希共济失调。发现三名患者具有紫杉素基因的纯合插入突变（689insT）。该系列患者的一个姐姐死于脑出血，享年45岁，并接受了尸检。在她的小脑皮层中，絮状体中的Purkinje细胞的平均密度主要降低至正常对照组的6.7％，而在小脑半球其他区域中的Purkinje细胞则降低至78.2％。这表明小脑絮状物是AOA1 / EAOH中主要的病变，应与眼运动性失用症相关。

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