Pontine autosomal dominant microangiopathy and leukoencephalopathy

VernacularTitle:脑桥常染色体显性微血管病和脑白质病
Author: Chuanzhu YAN ¹ ; Ruonan DUAN
Author Information

1. 山东大学齐鲁医院神经内科，济南　250012
Keywords: Cerebral small vessel diseases; Ischemic stroke; Stroke, lacunar; COL4A1 protein, human
From: Chinese Journal of Neurology 2024;57(8):894-899
CountryChina
Language:Chinese
Abstract: Pontine autosomal dominant microangiopathy and leukoencephalopathy (PADMAL) is an extremely rare autosomal dominant cerebral small vessel disease. Since the discovery of the pathogenic gene COL4A1, several PADMAL pedigrees have been reported in recent years. The pathogenesis of PADMAL is due to the increased formation of type Ⅳ collagen caused by mutation of the 3′ untranslated region of COL4A1. Abnormal accumulation of collagen in the extracellular matrix leads to thickening of the basement membrane and narrowing of the lumen. Patients present with recurrent lacunar infarction at early stage, and cognitive impairment may occur as the disease progresses. The main imaging changes of PADMAL are multiple lacunar infarcts and bilateral hemispherical white matter lesions. Under electron microscope, the lumen of small blood vessels in the skin is obviously narrowed and the basement membrane is thickened. Currently, there are no effective treatments or interventions for PADMAL.