一名具有遗传性弥漫性白质脑病伴轴突球状体临床和神经放射学特征患者的新型集落刺激因子1受体（CSF1R）突变
A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids.
作者信息
Di Donato Ilaria, Stabile Carmen, Bianchi Silvia, Taglia Ilaria, Mignarri Andrea, Salvatore Simona, Giorgio Elisa, Brusco Alfredo, Simone Isabella, Dotti Maria Teresa, Federico Antonio
机构信息
Unit Clinical Neurology and Neurometabolic Diseases, Department Medicine, Surgery and Neurosciences, Medical School, University of Siena, Siena, Italy.
Department of Medical Sciences, University of Turin, Turin, Italy.
出版信息
J Alzheimers Dis. 2015;47(2):319-22. doi: 10.3233/JAD-150097.
Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is an autosomal dominant cerebral white matter degeneration leading to progressive cognitive and motor dysfunction. The peripheral nervous system is generally spared. Recently, mutations in the colony-stimulating factor-1 receptor (CSF1R) gene have been shown to be associated with HDLS. Here we report a new case of HDLS, carrying a mutation in CSF1R and manifesting rapidly progressive dementia and peripheral neuropathy.
遗传性弥漫性白质脑病伴轴突 spheroids（HDLS）是一种常染色体显性遗传性脑白质变性疾病，可导致进行性认知和运动功能障碍。外周神经系统通常不受影响。最近研究表明，集落刺激因子-1 受体（CSF1R）基因突变与 HDLS 相关。本文报告了一例新的 HDLS 病例，该病例携带 CSF1R 基因突变，并表现为快速进展性痴呆和周围神经病变。
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