Leukoencephalopathy, Hereditary Diffuse, with Spheroids 1 (HDLS1)

遗传性弥漫性白质脑病伴球形体1型(来自ICD-11)

别称:

Hereditary Diffuse Leukoencephalopathy with Spheroids

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia

Alsp

Subcortical Gliosis of Neumann

Gpsc

Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids and Pigmented Glia

Autosomal Dominant Leukoencephalopathy with Neuroaxonal Spheroids

Leukoencephalopathy, Diffuse Hereditary, with Spheroids 1

Familial Progressive Subcortical Gliosis

Hdls

Leukoencephalopathy, Adult-Onset, with Axonal Spheroids and Pigmented Glia

Gliosis, Familial Progressive Subcortical

Pigmentary Orthochromatic Leukodystrophy

Familial Dementia, Neumann Type

Hdls1

Fpsg

Pold

Leukoencephalopathy with Neuroaxonal Spheroids, Autosomal Dominant

Leukoencephalopathy, Diffuse Hereditary, with Spheroids

Leukoencephalopathy, Diffuse Hereditary, with Spheroid

Dementia, Familial, Neumann Type

Familial Dementia Neumann Type

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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

白质脑病，遗传性弥漫性，伴有球体1，也称为遗传性弥漫性白质脑病伴有球体，与行为变异型额颞叶痴呆和anosognosia有关，症状包括肌肉僵硬、肌肉痉挛和运动迟缓。与白质脑病，遗传性弥漫性，伴有球体1有关的重要基因是CSF1R（粒细胞集落刺激因子1受体），其相关通路/超级通路包括原发性卵巢功能不全和翻译因子。在该疾病的背景下，已提到的药物有氟达拉滨和乙酰半胱氨酸。相关组织包括大脑和内皮，相关表型为癫痫和构音障碍。

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