Schnorf H, Bosshard N U, Gitzelmann R, Spycher M A, Isler P, Waespe W
Neurologische Klinik, Universitätsspital Zürich.
Schweiz Med Wochenschr. 1996 May 4;126(18):757-64.
Three adult siblings had atypical progressive spinal muscular atrophy of the limb-girdle type, predominantly sensory polyneuropathy and cerebellar ataxia. Hexosaminidase A and B activity was profoundly decreased in serum, leukocytes and cultured fibroblasts. GM2-gangliosidosis, variant O (Sandhoff disease) was diagnosed. Mechano-allodynia was the presenting symptom in two of the patients. After 50 years of disease evolution, the patients led an independent life and were intellectually normal. The literature on the adult form of GM2-gangliosidosis is reviewed.
三名成年兄弟姐妹患有肢带型非典型进行性脊髓性肌萎缩症，主要表现为感觉性多神经病和小脑共济失调。血清、白细胞和培养的成纤维细胞中的己糖胺酶A和B活性显著降低。诊断为GM2神经节苷脂沉积症O型变异型（桑德霍夫病）。两名患者以机械性异常性疼痛为首发症状。经过50年的疾病演变，患者能够独立生活，智力正常。本文对成人型GM2神经节苷脂沉积症的相关文献进行了综述。
