Disease specific therapies in leukodystrophies and leukoencephalopathies

G. Helman; K. van Haren; J.L. Bonkowsky; G. Bernard; A. Pizzino; N. Braverman; D. Suhr; M.C. Patterson; S.A. Fatemi; J. Leonard; M.S. van der Knaap; S.A. Back; S. Damiani; S.A. Goldman; A. Takanohashi; M. Petryniak; D. Rowitch; A. Messing; L. Wrabetz; R. Schiffmann; F. Eichler; M.L. Escolar; A. Vanderver

doi:10.1016/j.ymgme.2015.01.014

Disease specific therapies in leukodystrophies and leukoencephalopathies

G. Helman, K. van Haren, J.L. Bonkowsky, G. Bernard, A. Pizzino, N. Braverman, D. Suhr, M.C. Patterson, S.A. Fatemi, J. Leonard, M.S. van der Knaap, S.A. Back, S. Damiani, S.A. Goldman, A. Takanohashi, M. Petryniak, D. Rowitch, A. Messing, L. Wrabetz, R. SchiffmannF. Eichler, M.L. Escolar, A. Vanderver

Research output: Contribution to Journal › Article › Academic › peer-review

Abstract

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.

Original language	English
Pages (from-to)	527-536
Journal	Molecular Genetics and Metabolism
Volume	114
Issue number	4
DOIs	https://doi.org/10.1016/j.ymgme.2015.01.014
Publication status	Published - 2015

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Helman, G., van Haren, K., Bonkowsky, J. L., Bernard, G., Pizzino, A., Braverman, N., Suhr, D., Patterson, M. C., Fatemi, S. A., Leonard, J., van der Knaap, M. S., Back, S. A., Damiani, S., Goldman, S. A., Takanohashi, A., Petryniak, M., Rowitch, D., Messing, A., Wrabetz, L., ... Vanderver, A. (2015). Disease specific therapies in leukodystrophies and leukoencephalopathies. Molecular Genetics and Metabolism, 114(4), 527-536. https://doi.org/10.1016/j.ymgme.2015.01.014

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title = "Disease specific therapies in leukodystrophies and leukoencephalopathies",

abstract = "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.",

author = "G. Helman and {van Haren}, K. and J.L. Bonkowsky and G. Bernard and A. Pizzino and N. Braverman and D. Suhr and M.C. Patterson and S.A. Fatemi and J. Leonard and {van der Knaap}, M.S. and S.A. Back and S. Damiani and S.A. Goldman and A. Takanohashi and M. Petryniak and D. Rowitch and A. Messing and L. Wrabetz and R. Schiffmann and F. Eichler and M.L. Escolar and A. Vanderver",

year = "2015",

doi = "10.1016/j.ymgme.2015.01.014",

language = "English",

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journal = "Molecular Genetics and Metabolism",

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Helman, G, van Haren, K, Bonkowsky, JL, Bernard, G, Pizzino, A, Braverman, N, Suhr, D, Patterson, MC, Fatemi, SA, Leonard, J, van der Knaap, MS, Back, SA, Damiani, S, Goldman, SA, Takanohashi, A, Petryniak, M, Rowitch, D, Messing, A, Wrabetz, L, Schiffmann, R, Eichler, F, Escolar, ML & Vanderver, A 2015, 'Disease specific therapies in leukodystrophies and leukoencephalopathies', Molecular Genetics and Metabolism, vol. 114, no. 4, pp. 527-536. https://doi.org/10.1016/j.ymgme.2015.01.014

TY - JOUR

T1 - Disease specific therapies in leukodystrophies and leukoencephalopathies

AU - Helman, G.

AU - van Haren, K.

AU - Bonkowsky, J.L.

AU - Bernard, G.

AU - Pizzino, A.

AU - Braverman, N.

AU - Suhr, D.

AU - Patterson, M.C.

AU - Fatemi, S.A.

AU - Leonard, J.

AU - van der Knaap, M.S.

AU - Back, S.A.

AU - Damiani, S.

AU - Goldman, S.A.

AU - Takanohashi, A.

AU - Petryniak, M.

AU - Rowitch, D.

AU - Messing, A.

AU - Wrabetz, L.

AU - Schiffmann, R.

AU - Eichler, F.

AU - Escolar, M.L.

AU - Vanderver, A.

PY - 2015

Y1 - 2015

N2 - 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.

AB - 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.

U2 - 10.1016/j.ymgme.2015.01.014

DO - 10.1016/j.ymgme.2015.01.014

M3 - Article

SN - 1096-7192

VL - 114

SP - 527

EP - 536

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

IS - 4

ER -

Disease specific therapies in leukodystrophies and leukoencephalopathies

Abstract

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