多糖体神经病变，成人型
基因病名称(英)
Polyglucosan body neuropathy, adult form
别名(英)
Adult polyglucosan body disease,APBD,Polyglucosan body disease, adult form
统计
reviewed:1; annotated:0
交叉引用
263570,C1849722,D009422
描述(英)
A late-onset, slowly progressive disorder affecting the central and peripheral nervous systems. Patients typically present after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other manifestations include cerebellar dysfunction and extrapyramidal signs. The pathologic hallmark of APBN is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes.
描述
一种影响中枢和周围神经系统的迟发性、缓慢进展性疾病。患者通常在 40 岁后出现认知障碍、锥体四肢轻瘫、周围神经病变和神经源性膀胱的可变组合。其他表现包括小脑功能障碍和锥体外系体征。APBN 的病理特征是在整个神经系统中广泛积聚圆形的细胞内多糖体，这些多糖体仅限于神经元和星形细胞过程。