Bruno C, Servidei S, Shanske S, Karpati G, Carpenter S, McKee D, Barohn R J, Hirano M, Rifai Z, DiMauro S
Muscular Dystrophy Association, H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia-Presbyterian Medical Center, New York, NY.
Ann Neurol. 1993 Jan;33(1):88-93. doi: 10.1002/ana.410330114.
Branching enzyme activity was assayed in muscle, peripheral nerve, and leukocytes from 2 Ashkenazi-Jewish patients with adult polyglucosan body disease and 1 African-American and 3 Caucasian patients with the same clinical and pathological features. Branching enzyme activity was normal in the muscle specimens from both Jewish and non-Jewish patients. However, the activity was markedly decreased not only in the leukocytes from the 2 Jewish patients (confirming previous findings), but also in peripheral nerve specimens, whereas it was normal in nerve tissue and leukocytes from all non-Jewish patients. These data confirm a branching enzyme deficiency in a subgroup of patients with adult polyglucosan body disease, and show that the defect is tissue-specific, suggesting that adult polyglucosan body disease has more than one biochemical basis.
对2例患有成人型多葡聚糖体病的阿什肯纳兹犹太患者以及1例非裔美国患者和3例具有相同临床和病理特征的高加索患者的肌肉、外周神经和白细胞中的分支酶活性进行了检测。犹太患者和非犹太患者的肌肉标本中的分支酶活性均正常。然而，不仅2例犹太患者的白细胞中的活性显著降低（证实了先前的发现），外周神经标本中的活性也显著降低，而所有非犹太患者的神经组织和白细胞中的活性均正常。这些数据证实了成人型多葡聚糖体病患者亚组中存在分支酶缺乏，并表明该缺陷具有组织特异性，提示成人型多葡聚糖体病有不止一种生化基础。
