Spastic Paraplegia 11, Autosomal Recessive (SPG11)

常染色体隐性痉挛性截瘫11型(来自ICD-11)

别称:

Spg11

Hereditary Spastic Paraplegia 11

Spastic Paraplegia-Intellectual Disability-Thin Corpus Callosum Syndrome

Autosomal Recessive Spastic Paraplegia Type 11

Nakamura-Osame Syndrome

Hsp-Tcc

Spastic Paraplegia, Autosomal Recessive, with Mental Impairment and Thin Corpus Callosum

Autosomal Recessive Spastic Paraplegia with Mental Impairment and Thin Corpus Callosum

Spastic Paraplegia Autosomal Recessive with Mental Impairment and Thin Corpus Callosum

Spastic Paraplegia, Autosomal Recessive, Complicated, with Thin Corpus Callosum

Autosomal Recessive Spastic Paraplegia Complicated with Thin Corpus Callosum

Spastic Paraplegia Autosomal Recessive Complicated with Thin Corpus Callosum

Autosomal Recessive Spastic Paraplegia with Thinning of Corpus Callosum

Paraplegia, Spastic, Autosomal Recessive, Type 11

Autosomal Recessive Spastic Paraplegia 11

Nakamura Osame Syndrome

Arhsp-Tcc

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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

脊髓性肌萎缩症11，常染色体隐性，也称为spg11，与脊髓性肌萎缩症11和脊髓性肌萎缩症有关，症状包括共济失调、尿急和异常锥体征。与脊髓性肌萎缩症11，常染色体隐性有关的重要基因是SPG11（SPG11囊泡运输相关，Spatacsin）。相关组织包括大脑和脊髓，相关表型为智力障碍、轻度和特定学习障碍。

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