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在用酶替代疗法治疗的CLN2-Batten疾病患者中,运动障碍的演变

Robert Spaull1, Audrey K Soo1, Spyros Batzios1

  • 1From the Molecular Neurosciences (R.S., A.K.S., M.A.K.), Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; Department of Neurology (R.S., A.K.S., L.C., M.A.K.), Great Ormond Street Hospital, London, United Kingdom; Department of Paediatric Metabolic Diseases (S.B., E.F., R.W., P.G.), Great Ormond Street Hospital for Children, London, United Kingdom; Department of Neurology (J.W.M.), University of Rochester, NY; and Genetics and Genomic Medicine (P.G.), UCL Great Ormond Street Institute of Child Health, London, United Kingdom.

Neurology
|July 8, 2024
PubMed
概括

神经神经质脂类型2 (CLN2疾病) 运动障碍,包括动力衰竭和肌,是常见的,并遵循可预测的模式. 酶替代疗法 (ERT) 显著减缓了这些衰弱症状的进展.

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