Disease specific therapies in leukodystrophies and leukoencephalopathies

作者：Helman Guy; Van Haren Keith; Bonkowsky Joshua L; Bernard Genevieve; Pizzino Amy; Braverman Nancy; Suhr Dean; Patterson Marc C; Fatemi S Ali; 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

来源：Molecular Genetics and Metabolism, 2015, 114(4): 527-536.

DOI：10.1016/j.ymgme.2015.01.014

• Leukodystrophy
• Consensus
• Therapy
• Care
• Outcomes
• Prevention

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.

• 出版日期2015-4
• 单位McGill