Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 (SCAN2)

常染色体隐性脊髓小脑性共济失调伴有轴索性神经病2型(来自ICD-11)

别称:

Aoa2

Scar1

Spinocerebellar Ataxia with Axonal Neuropathy Type 2

Ataxia with Oculomotor Apraxia Type 2

Scan2

Ataxia-Oculomotor Apraxia Type 2

Ataxia-Oculomotor Apraxia 2

Ataxia-Ocular Apraxia 2

Scan 2

Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 2

Spinocerebellar Ataxia, Autosomal Recessive 1, Formerly

Ataxia, Spinocerebellar, Autosomal Recrecessive, Type 1

Spinocerebellar Ataxia with Axonal Neuropathy 2

Spinocerebellar Ataxia, Autosomal Recessive, 1

Spinocerebellar Ataxia, Autosomal Recessive 1

Autosomal Recessive Spinocerebellar Ataxia 1

Ataxia-Ocular Apraxia-2

Scar1, Formerly

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

脊髓小脑性共济失调，常染色体隐性型，伴有轴索性神经病2，也称为aoa2，与共济失调、早发型、眼动性失用症和低白蛋白血症以及眼动性失用症有关。与脊髓小脑性共济失调，常染色体隐性型，伴有轴索性神经病2相关的基因是SETX（Senataxin），其相关通路/超级通路包括TCR信号通路（Qiagen）和fMLP通路。相关组织包括眼睛和脊髓，相关表型为共济失调和无反应性。

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