Disease specific therapies in leukodystrophies and leukoencephalopathies

被引：40

作者：

Helman, Guy ^{[1
]}

Van Haren, Keith ^{[2
,3
]}

Bonkowsky, Joshua L. ^{[4
]}

Bernard, Genevieve ^{[5
,6
]}

Pizzino, Amy ^{[2
,3
]}

Braverman, Nancy ^{[7
,8
]}

Suhr, Dean

Patterson, Marc C. ^{[9
,10
]}

Fatemi, S. Ali ^{[11
]}

Leonard, Jeff

van der Knaap, Marjo S. ^{[12
,13
]}

Back, Stephen A. ^{[14
]}

Damiani, Stephen ^{[15
,16
]}

Goldman, Steven A. ^{[17
,18
]}

Takanohashi, Asako ^{[19
]}

Petryniak, Magdalena ^{[20
]}

Rowitch, David ^{[21
,22
]}

Messing, Albee ^{[23
,24
]}

Wrabetz, Lawrence ^{[25
,26
]}

Schiffmann, Raphael ^{[27
]}

Eichler, Florian ^{[28
]}

Escolar, Maria L. ^{[29
]}

Vanderver, Adeline ^{[1
,19
,30
]}

机构：

[1] Childrens Natl Hlth Syst, Dept Neurol, Washington, DC 20001 USA

[2] Lucile Packard Childrens Hosp, Dept Neurol, Stanford, CA USA

[3] Stanford Univ, Sch Med, Stanford, CA USA

[4] Univ Utah, Sch Med, Dept Pediat & Neurol, Salt Lake City, UT USA

[5] McGill Univ, Montreal Childrens Hosp, Ctr Hlth, Dept Pediat, Montreal, PQ H3H 1P3, Canada

[6] McGill Univ, Montreal Childrens Hosp, Ctr Hlth, Dept Neurol & Neurosurg, Montreal, PQ H3H 1P3, Canada

[7] McGill Univ, Dept Human Genet & Pediat, Montreal, PQ, Canada

[8] Montreal Childrens Hosp, Res Inst, Montreal, PQ H3H 1P3, Canada

[9] Mayo Clin, Dept Neurol, Rochester, MN USA

[10] Mayo Clin, Dept Pediat & Med Genet, Rochester, MN USA

[11] Johns Hopkins Sch Med, Kennedy Krieger Inst, Moser Ctr Leukodystrophies & Neurogenet Serv, Baltimore, MD USA

[12] Vrije Univ Amsterdam Med Ctr, Dept Child Neurol, Amsterdam, Netherlands

[13] Neurosci Campus Amsterdam, Amsterdam, Netherlands

[14] Oregon Hlth & Sci Univ, Dept Pediat & Neurol, Portland, OR 97201 USA

[15] Mission Massimo Fdn Inc, Melbourne, Vic, Australia

[16] Mission Massimo Fdn Inc, Los Angeles, CA USA

[17] Univ Rochester, Med Ctr, Ctr Translat Neuromed, Rochester, NY 14642 USA

[18] Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USA

[19] Childrens Natl Hlth Syst, Med Genet Res Ctr, Washington, DC USA

[20] Oregon Hlth & Sci Univ, Dept Pediat, Pape Family Pediat Res Inst, Portland, OR 97201 USA

[21] Univ Calif San Francisco, Dept Pediat, San Francisco, CA USA

[22] Univ Calif San Francisco, Dept Neurol Surg, San Francisco, CA USA

[23] Univ Wisconsin, Waisman Ctr, Madison, WI 53705 USA

[24] Univ Wisconsin, Dept Comparat Biosci, Madison, WI 53706 USA

[25] SUNY Buffalo, Hunter James Kelly Res Inst HJRKI, Dept Neurol, Sch Med & Biomed Sci, Buffalo, NY 14260 USA

[26] SUNY Buffalo, Hunter James Kelly Res Inst HJRKI, Dept Biochem, Sch Med & Biomed Sci, Buffalo, NY 14260 USA

[27] Baylor Res Inst, Inst Metab Dis, Dallas, TX USA

[28] Harvard Univ, Massachusetts Gen Hosp, Sch Med, Dept Neurol, Boston, MA USA

[29] Univ Pittsburgh, Dept Pediat, Pittsburgh, PA 15260 USA

[30] George Washington Univ, Sch Med, Dept Integrated Syst Biol, Washington, DC USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2015年 / 114卷 / 04期

关键词：

Leukodystrophy; Consensus; Therapy; Care; Outcomes; Prevention; AICARDI-GOUTIERES-SYNDROME; X-LINKED ADRENOLEUKODYSTROPHY; HEMATOPOIETIC-CELL TRANSPLANTATION; BONE-MARROW-TRANSPLANTATION; CORD BLOOD TRANSPLANTATION; KRABBE-DISEASE; METACHROMATIC LEUKODYSTROPHY; PHARMACOLOGICAL CHAPERONES; CEREBROTENDINOUS XANTHOMATOSIS; PEROXISOME BIOGENESIS;

D O I：

10.1016/j.ymgme.2015.01.014

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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. (C) 2015 Elsevier Inc. All rights reserved.

引用

页码：527 / 536

页数：10

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