Neurodegeneration with Brain Iron Accumulation 1 (NBIA1)

大脑铁沉积型神经退行性病变1型(来自ICD-11)

别称:

Pantothenate Kinase-Associated Neurodegeneration

Nbia1

Pkan

Hallervorden-Spatz Syndrome

Hallervorden-Spatz Disease

Neurodegeneration with Brain Iron Accumulation Type 1

Pigmentary Pallidal Degeneration

Classic Pantothenate Kinase-Associated Neurodegeneration

Neurodegeneration with Brain Iron Accumulation Type 1, Atypical Form

Neurodegeneration with Brain Iron Accumulation Type 1, Classic Form

Atypical Pantothenate Kinase-Associated Neurodegeneration

Neurodegeneration, with Brain Iron Accumulation, Type 1

Pkan Neuroaxonal Dystrophy, Juvenile-Onset

Pkan Neuroaxonal Dystrophy Juvenile-Onset

Brain Iron Accumulation Type I Syndrome

Nbia1, Atypical Form

Nbia1, Classic Form

Pkan, Atypical Form

Pkan, Classic Form

Hss

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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

神经退行性脑铁沉积1，也称为泛醇激酶相关神经退行性病变，与神经退行性脑铁沉积6和肌张力障碍12有关，症状包括共济失调、肌肉僵硬和肌肉痉挛。与神经退行性脑铁沉积1有关的重要基因是PANK2（泛醇激酶2），其相关通路/超级通路包括代谢和水溶性维生素和辅因子的代谢。在该疾病的背景下提到了铁和Deferiprone这两种药物。相关组织包括脑和眼，相关表型为痉挛和步态障碍。

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