Journal article

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

Sumit Parikh, Genevieve Bernard, Richard J Leventer, Marjo S van der Knaap, Johan van Hove, Amy Pizzino, Nathan H McNeill, Guy Helman, Cas Simons, Johanna L Schmidt, William B Rizzo, Marc C Patterson, Ryan J Taft, Adeline Vanderver

Molecular Genetics and Metabolism | ACADEMIC PRESS INC ELSEVIER SCIENCE | Published : 2015

Abstract

Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result in white matter abnormalities in the central nervous system (CNS). Magnetic resonance (MR) imaging (MRI) has dramatically improved and systematized the diagnosis of LDs and gLEs, and in combination with specific clinical features, such as Addison's disease in Adrenoleukodystrophy or hypodontia in Pol-III related or 4H leukodystrophy, can often resolve a case with a minimum of testing. The diagnostic odyssey for the majority LD and gLE patients, however, remains extensive--many patients will wait nearly a decade for a definitive diagnosis and at least half will remain unresolved. The combination of MRI, ca..

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Grants

Awarded by National Institutes of Health, National Institute of Neurologic Disorders and Stroke


Awarded by NINDS


Awarded by National Health and Medical Research Council, Australia


Awarded by NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE


Funding Acknowledgements

SP: Supported by grants from the National Institutes of Health and Edison Pharmaceuticals. GB: Supported by a Research Scholar Junior 1 of the Fonds de Recherche du Quebec en Sante (FRQS). She has received research operating grant from the Fondation sur les Leucodystrophies, the Fondation du Grand Defi Pierre Lavoie, Genome Canada and the Canadian Institutes of Health Research (CIHR). GB reports the following pharmaceutical support: Actelion Pharmaceuticals (research, travel expenses, consulting), Shire (research, travel expenses, consulting), Genzyme (consulting), Cathena (consulting). SB: Supported by grants from the National Institutes of Health and Stem Cells Inc. AV: Supported by grants from the National Institutes of Health, National Institute of Neurologic Disorders and Stroke (1K08NS060695) and the Myelin Disorders Bioregistry Project. MCP: Funding: Actelion, NINDS (U54N5065768-02), National MS Society. Actelion Pharmaceuticals: Research grants; travel expenses; consulting honoraria directed to Mayo Clinic.; Genzyme (Sanofi): Consulting; Amicus: Data Safety Monitoring Board; Orphazyme (Denmark): Consulting; consulting honoraria directed to Mayo Clinic; Shire Human Genetic Therapies: travel expenses; consulting honoraria directed to Mayo Clinic; Stem Cells, Inc: Chair, Data Monitoring Committee; honorarium retained; Up-To-Date: Section Editor; royalties retained; Journal of Child Neurology: Editorial Board (no compensation); WHO International Advisory Group on revision of ICD-10: ICNA representative (no compensation); IOM Committee to Review Adverse Effects of Vacines: member (no compensation) completed. RJT and CS: Supported by National Health and Medical Research Council, Australia Grant (APP1068278)