Scarpelli Mauro, Tomelleri Giuliano, Bertolasi Laura, Salviati Alessandro
Section of Neurology, Department of Neurological and Movement Sciences, University of Verona, Verona, Italy.
Mol Genet Metab Rep. 2014 Jul 2;1:269-272. doi: 10.1016/j.ymgmr.2014.06.002. eCollection 2014.
An adult with Sandhoff disease presented with pure lower motor neuron phenotype. Twenty years later, he showed signs of upper motor neuron involvement. 25 years from the onset, his muscle weakness slightly worsened but he was fully independent in activities of daily living. GM2-gangliosidosis can manifest as a motor neuron disease with a slowly progressive course. The correct knowledge of the natural history can be really important to achieve the diagnosis, design new therapies and evaluate clinical trials.
一名患有桑德霍夫病的成年人最初表现为单纯的下运动神经元表型。二十年后，他出现了上运动神经元受累的迹象。发病25年后，他的肌肉无力稍有加重，但在日常生活活动中仍完全独立。GM2神经节苷脂沉积症可表现为一种病程缓慢进展的运动神经元病。正确了解其自然病史对于实现诊断、设计新疗法以及评估临床试验至关重要。
