Stabile Carmen, Taglia Ilaria, Battisti Carla, Bianchi Silvia, Federico Antonio
Department of Medicine, Surgery and Neurosciences, University of Siena, Siena, Italy.
Unit Clinical Neurology and Neurometabolic Diseases, Azienda Ospedaliera Universitaria Senese, Viale Bracci 2, 53100, Siena, Italy.
Neurol Sci. 2016 Sep;37(9):1565-9. doi: 10.1007/s10072-016-2634-6. Epub 2016 Jun 23.
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare autosomal dominant disease characterized by giant neuroaxonal swellings (spheroids) within the cerebral white matter (WM). Symptoms are variable and can include cognitive, mental and motor dysfunctions. Patients carry mutations in the protein kinase domain of the colony-stimulating factor 1 receptor (CSF1R) which is a tyrosine kinase receptor essential for microglia development. To date, more than 50 pathogenic variants have been reported in patients with HDLS, including missense, frameshift and non-sense mutations, but also deletions and splice-site mutations, all located in the intracellular tyrosine kinase domain, encoded by exons 12-22. The aim of this paper is to review the literature data about the molecular genetic pattern of HDLS.
遗传性球形细胞白质营养不良症（HDLS）是一种罕见的常染色体显性疾病，其特征是脑白质（WM）内出现巨大的神经轴突肿胀（球形细胞）。症状多样，可能包括认知、精神和运动功能障碍。患者在集落刺激因子1受体（CSF1R）的蛋白激酶结构域中携带突变，CSF1R是一种对小胶质细胞发育至关重要的酪氨酸激酶受体。迄今为止，HDLS患者已报告了50多种致病变体，包括错义、移码和无义突变，还有缺失和剪接位点突变，所有这些都位于由外显子12 - 22编码的细胞内酪氨酸激酶结构域中。本文的目的是回顾有关HDLS分子遗传模式的文献数据。
