Lossos A, Barash V, Soffer D, Argov Z, Gomori M, Ben-Nariah Z, Abramsky O, Steiner I
Department of Neurology, Hadassah University Hospital, Hebrew University-Hadassah Medical School, Jerusalem, Israel.
Ann Neurol. 1991 Nov;30(5):655-62. doi: 10.1002/ana.410300505.
We describe 2 unrelated patients with adult polyglucosan body disease (APBD) diagnosed by sural nerve biopsy. Both patients were offspring of consanguineous marriages. They presented clinically with late onset pyramidal tetraparesis, micturition difficulties, peripheral neuropathy, and mild cognitive impairment. Magnetic resonance imaging of the brain revealed extensive white matter abnormalities in both. In search of a possible metabolic defect, we evaluated glycogen metabolism in these patients and their clinically unaffected children. Branching enzyme activity in the patients' polymorphonuclear leukocytes was about 15% of control values, whereas their children displayed values of 50 to 60%, suggesting a possible autosomal recessive mode of transmission. This is the first report of an inherited metabolic defect in patients with adult polyglucosan body disease. We suggest that branching enzyme dysfunction may be implicated in the pathogenesis of some patients with adult polyglucosan body disease.
我们描述了2例通过腓肠神经活检确诊为成人多糖体病（APBD）的非亲缘关系患者。两名患者均为近亲结婚的后代。他们临床上表现为迟发性锥体束性四肢轻瘫、排尿困难、周围神经病变和轻度认知障碍。脑部磁共振成像显示两人均有广泛的白质异常。为寻找可能的代谢缺陷，我们评估了这些患者及其临床未受累子女的糖原代谢情况。患者多形核白细胞中的分支酶活性约为对照值的15%，而他们子女的活性值为50%至60%，提示可能为常染色体隐性遗传模式。这是关于成人多糖体病患者遗传性代谢缺陷的首例报告。我们认为分支酶功能障碍可能与部分成人多糖体病患者的发病机制有关。
