脑白质营养不良和脑白质病的疾病特异性疗法。
Disease specific therapies in leukodystrophies and leukoencephalopathies.
作者信息
Helman Guy, Van Haren Keith, Bonkowsky Joshua L, Bernard Genevieve, Pizzino Amy, Braverman Nancy, Suhr Dean, Patterson Marc C, Ali Fatemi S, Leonard Jeff, van der Knaap Marjo S, Back Stephen A, Damiani Stephen, Goldman Steven A, Takanohashi Asako, Petryniak Magdalena, Rowitch David, Messing Albee, Wrabetz Lawrence, Schiffmann Raphael, Eichler Florian, Escolar Maria L, Vanderver Adeline
机构信息
Department of Neurology, Children's National Health System, Washington, DC, USA.
Department of Neurology, Lucile Packard Children's Hospital and Stanford University School of Medicine, Stanford, CA, USA.
出版信息
Mol Genet Metab. 2015 Apr;114(4):527-36. doi: 10.1016/j.ymgme.2015.01.014. Epub 2015 Feb 7.
Leukodystrophies are a heterogeneous, often progressive group of disorders manifesting a wide range of symptoms and complications. Most of these disorders have historically had no etiologic or disease specific therapeutic approaches. Recently, a greater understanding of the pathologic mechanisms associated with leukodystrophies has allowed clinicians and researchers to prioritize treatment strategies and advance research in therapies for specific disorders, some of which are on the verge of pilot or Phase I/II clinical trials. This shifts the care of leukodystrophy patients from the management of the complex array of symptoms and sequelae alone to targeted therapeutics. The unmet needs of leukodystrophy patients still remain an overwhelming burden. While the overwhelming consensus is that these disorders collectively are symptomatically treatable, leukodystrophy patients are in need of advanced therapies and if possible, a cure.
脑白质营养不良是一组异质性疾病，通常呈进行性发展，表现出广泛的症状和并发症。历史上，这些疾病大多没有病因特异性或疾病特异性的治疗方法。最近，对与脑白质营养不良相关的病理机制有了更深入的了解，这使临床医生和研究人员能够确定治疗策略的优先级，并推动针对特定疾病的治疗研究，其中一些疾病正处于试点或I/II期临床试验的边缘。这将脑白质营养不良患者的护理从单纯管理复杂的症状和后遗症转变为靶向治疗。脑白质营养不良患者未满足的需求仍然是一个巨大的负担。虽然压倒性的共识是这些疾病总体上在症状上是可治疗的，但脑白质营养不良患者需要先进的治疗方法，如有可能，还需要治愈。
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