Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10833049 | Molecular Genetics and Metabolism | 2015 | 10 Pages |
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.
Keywords
AxDPelizaeus–Merzbacher diseaseAPBDVWMCTXAAV2SAMHD1DTIZellweger spectrum disorderPEXMLDAGSUCSFHSCTNaAX-linked adrenoleukodystrophyGFAPX-ALDABCD1ABCD2SAM domain and HD domain-containing protein 1Adult polyglucosan body diseaseIFNαDNAPMdα-interferonenzyme replacement therapyConsensusVanishing white matter diseasedeoxyribonucleic acidribonucleic acidRNAMRICarealexander diseasediffusion tensor imagingMagnetic resonance imagingLINE1University of California, San FranciscoTherapyCNSCerebrotendinous xanthomatosiscentral nervous systemOutcomesSystemic lupus erythematosusSLELeukodystrophyMetachromatic leukodystrophyCSFCerebrospinal fluidERTPeroxisomalPol IIIpolymerase IIIPreventionHematopoietic stem cell transplantationgalactosylceramidaseGalC
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Authors
Guy Helman, Keith Van Haren, Joshua L. Bonkowsky, Genevieve Bernard, Amy Pizzino, Nancy Braverman, Dean Suhr, Marc C. Patterson, S. Ali Fatemi, Jeff Leonard, Marjo S. van der Knaap, Stephen A. Back, Stephen Damiani, Steven A. Goldman, Asako Takanohashi,