Affiliation: Kennedy Krieger Institute
- Molecular genetics of peroxisomal disordersH W Moser
Johns Hopkins University, Kennedy Krieger Institute, 707 North Broadway, Baltimore, MD 21205, USA
Front Biosci 5:D298-306. 2000..The identification of the molecular defects and the development of animal models have increased understanding of pathogenetic mechanisms, and have led to novel therapeutic approaches...
- Therapy of X-linked adrenoleukodystrophyHugo W Moser
Kennedy Krieger Institute, Johns Hopkins University, 707 North Broadway, Baltimore, MD 21205, USA
NeuroRx 3:246-53. 2006..Application of these interventions requires careful assessment of the patients' phenotype, which often changes over time. Family screening provides important opportunities for disease prevention...
- Adrenoleukodystrophy: new approaches to a neurodegenerative diseaseHugo W Moser
Author Affliations Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA
JAMA 294:3131-4. 2005..Neonatal screening is likely to become available, and a wider awareness of X-ALD and its various modes of presentation permit new proactive approaches to this distressing disorder...
- Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oilHugo W Moser
Kennedy Krieger Institute, Baltimore, MD 21205, USA
Arch Neurol 62:1073-80. 2005..To identify asymptomatic boys with X-linked adrenoleukodystrophy who have a normal magnetic resonance image (MRI), and to assess the effect of 4:1 glyceryl trioleate-glyceryl trierucate (Lorenzo's oil) on disease progression...
- Genetic causes of mental retardationHugo W Moser
Neurogenetics Research Center, Kennedy Krieger Institute, Johns Hopkins University School of Medicine, 707 North Broadway, Baltimore, MD 21205, USA
Ann N Y Acad Sci 1038:44-8. 2004..We must gain a better understanding of structure/function relationships, which becomes more and more possible with neuroimaging. A better understanding of neural plasticity can lead to correction by early intervention...
- Evaluation of therapy of X-linked adrenoleukodystrophyHugo W Moser
Division of Neurogenetics, Kennedy Krieger Institute, Departments of Neurology, Johns Hopkins University, USA
Neurochem Res 29:1003-16. 2004
- Evaluation of the preventive effect of glyceryl trioleate-trierucate ("Lorenzo's oil") therapy in X-linked adrenoleukodystrophy: results of two concurrent trialsHugo W Moser
Kennedy Krieger Institute and Department of Neurology, Johns Hopkins University, Baltimore, MD, USA
Adv Exp Med Biol 544:369-87. 2003
- Therapy of X-linked adrenoleukodystrophy: prognosis based upon age and MRI abnormality and plans for placebo-controlled trialsH W Moser
Kennedy Krieger Institute and the Department of Neurology at Johns Hopkins University, Baltimore, MD 21205, USA
J Inherit Metab Dis 23:273-7. 2000..2) We present plans for the development of a placebo-controlled multicentre international study that will have sufficient biostatistical power to provide objective evaluation of new therapeutic interventions...
- Progress in X-linked adrenoleukodystrophyHugo Moser
Kennedy Krieger Institute, Baltimore, USA
Curr Opin Neurol 17:263-9. 2004..SUMMARY: Progress has been achieved in the delineation of the phenotypes, pathogenesis, diagnosis and prevention of X-linked adrenoleukodystrophy, and therapies are emerging...
- Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findingsWalter C Hubbard
Division of Clinical Pharmacology, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Osler 527, Baltimore, MD 21287, USA
Mol Genet Metab 89:185-7. 2006..There was no overlap between normal subjects versus affected subjects...
- The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrumSteven Steinberg
Peroxisomal Diseases Laboratory, Kennedy Krieger Institute and Department of Neurology, Johns Hopkins University, Baltimore, MD, USA
Mol Genet Metab 83:252-63. 2004..This systematic, hierarchical approach to mutation identification is therefore a valuable tool to identify rapidly the molecular etiology of suspected PBD-ZSS disorders...
- Progressive cavitating leukoencephalopathy: a novel childhood diseaseSakkubai Naidu
Neurogenetics Department, Kennedy Krieger Institute and the Johns Hopkins Medical Institutions, 707 N Broadway, 5th Floor Tower, Baltimore, MD 21205, USA
Ann Neurol 58:929-38. 2005..Pathological studies show severe loss of myelin sparing U-fibers, axonal disruption, and cavitary lesions without inflammation. Familial occurrence and consanguinity suggest autosomal recessive inheritance of this distinct entity...
- Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotypeNancy Braverman
McKusick Nathans Institute of Genetic Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Hum Mutat 20:284-97. 2002..We find that residual activity of mutant Pex7p and reduced amounts of normal Pex7p are associated with milder and variant phenotypes...
- Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disordersDeyanira Corzo
Division of Genetics, The Children s Hospital, Boston, Massachusetts, USA
Am J Hum Genet 70:1520-31. 2002..The three patients with CADDS who are described here have important implications for genetic counseling, because individuals with CADDS may previously have been misdiagnosed as having an autosomal recessive PBD or SED..
- Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complexSatomi Furuki
Department of Biology, Faculty of Sciences, Kyushu University Graduate School, Fukuoka 812 8581, Japan
J Biol Chem 281:1317-23. 2006..Furthermore, we present several lines of evidence that show that the instability, insufficient binding to Pex1p x Pex6p complexes, or mislocalization of patient-derived Pex26p mutants is most likely responsible for the CG8 PBDs...
- X-linked adrenoleukodystrophy: therapeutic approaches to distinct phenotypesAsif Mahmood
Department of Neurology and Pediatrics, Neurogenetics Division, Johns Hopkins University, Kennedy Krieger Institute, Baltimore, MD 21205, USA
Pediatr Transplant 9:55-62. 2005..The rationale for neonatal screening and the profound effect that such screening would have on the therapy of X-ALD, including the role of HCT, are discussed...
- Peroxisome biogenesis disordersSteven J Steinberg
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Biochim Biophys Acta 1763:1733-48. 2006..Studies of the cellular and molecular defects in PBD patients have contributed significantly to our understanding of the role of each PEX gene in peroxisome assembly...
- X-linked adrenoleukodystrophyHugo W Moser
Neurogenetics Research Center, Kennedy Krieger Institute, 707 North Broadway, Baltimore, MD 21205, USA
Nat Clin Pract Neurol 3:140-51. 2007..A promising new method for mass newborn screening has been developed, the implementation of which will have a profound effect on the diagnosis and therapy of X-ALD...
- "Lorenzo's oil" therapy for X-linked adrenoleukodystrophy: rationale and current assessment of efficacyHugo W Moser
Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA
J Mol Neurosci 33:105-13. 2007..We also present current efforts to provide definitive evaluation of its clinical efficacy and discuss its possible role in the new therapeutic opportunities that will arise if newborn screening for X-ALD is validated and implemented...
- Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlationNaomi Matsumoto
Department of Biology, Faculty of Sciences, Kyushu University Graduate School, Fukuoka, Japan
Am J Hum Genet 73:233-46. 2003..These findings confirm that the degree of temperature sensitivity in pex26 cell lines is predictive of the clinical phenotype in patients with PEX26 deficiency...
- Auditory function in adrenomyeloneuropathyJoseph P Pillion
Kennedy Krieger Institute, United States
J Neurol Sci 269:24-9. 2008..Word recognition in quiet was relatively unimpaired for all subjects. Despite the presence of marked ABR abnormalities, patients with AMN denied the presence of significant difficulty hearing...
- Cognitive evaluation of neurologically asymptomatic boys with X-linked adrenoleukodystrophyChristiane S Cox
Kennedy Krieger Institute, The Johns Hopkins University, Baltimore, MD 21205, USA
Arch Neurol 63:69-73. 2006..X-linked adrenoleukodystrophy should be considered a candidate disorder for neonatal screening...
- Sensorimotor function and axonal integrity in adrenomyeloneuropathyKathleen M Zackowski
Kennedy Krieger Institute, The Johns Hopkins University; Baltimore, MD 21205, USA
Arch Neurol 63:74-80. 2006..Tract-specific magnetic resonance imaging metrics, such as fractional anisotropy (used herein to evaluate structure-function relationships), significantly reflect disease severity in AMN...
- Imaging cortical association tracts in the human brain using diffusion-tensor-based axonal trackingSusumu Mori
Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
Magn Reson Med 47:215-23. 2002..As a first illustration of this technical capability, a reduction in brain connectivity in a patient with a childhood neurodegenerative disease (X-linked adrenoleukodystrophy) was demonstrated...
- Magnetic resonance imaging detection of lesion progression in adult patients with X-linked adrenoleukodystrophyFlorian Eichler
Department of Neurology, Martinos Center for Biomedical Imaging, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA
Arch Neurol 64:659-64. 2007..An inherited disorder, X-linked adrenoleukodystrophy (X-ALD) is known to cause progressive inflammatory demyelination...
- New insights about hematopoietic stem cell transplantation in adrenoleukodystrophyHugo W Moser
Arch Neurol 64:631-2. 2007
- Survival analysis of haematopoietic cell transplantation for childhood cerebral X-linked adrenoleukodystrophy: a comparison studyAsif Mahmood
Kennedy Krieger Institute and Department of Neurology, Johns Hopkins University, Baltimore, MD, USA
Lancet Neurol 6:687-92. 2007..We analysed survival of CCALD patients who had not received HCT and, in a subgroup with early cerebral disease, compared survival in those who underwent HCT with those who did not...
- Adreno-leukodystrophy: oxidative stress of mice and menJames M Powers
Department of Pathology, University of Rochester Medical Center, Rochester, New York, USA
J Neuropathol Exp Neurol 64:1067-79. 2005..These differences between the adreno-leukodystrophy mouse and human patients are intriguing and may provide a clue to the phenotypic divergence in this disease...
- Diffusion tensor-based imaging reveals occult abnormalities in adrenomyeloneuropathyPrachi Dubey
Department of Neurogenetics and Functional Magnetic Resonance Imaging Kirby Center, Kennedy Krieger Institute, Baltimore, MD 21205, USA
Ann Neurol 58:758-66. 2005..Accompanying abnormalities in genu of corpus callosum indicate that the disease pathology in pure AMN may not be limited to spinal cord long tracts alone, although the involvement of the latter is most prominent and severe...
- Anti-ganglioside antibodies bind with enhanced affinity to gangliosides containing very long chain fatty acidsYumi Tagawa
Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
Neurochem Res 27:847-55. 2002..These data support the hypothesis that gangliosides bearing very long chain fatty acids are differentially displayed on membranes, which may lead to altered antigenicity...
- Proton MR spectroscopic imaging in Pelizaeus-Merzbacher diseaseFrancesca Pizzini
Kennedy Krieger Institute, Baltimore, MD, USA
AJNR Am J Neuroradiol 24:1683-9. 2003..CONCLUSION: Proton MRS imaging may be helpful in evaluating regional pathophysiologic abnormalities in PMD and in distinguishing PMD from other leukodystrophies, which exhibit different metabolic profiles...
- Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999Charles Peters
Department of Pediatrics, University of Minnesota, Minneapolis, USA
Blood 104:881-8. 2004..In this first comprehensive report of the international HCT experience for X-ALD, we conclude that boys with early-stage disease benefit from HCT, whereas boys with advanced disease may be candidates for experimental therapies...
- Brain glucose metabolism in Rett SyndromePatricia M Villemagne
Department of Radiology, Johns Hopkins Medical Institutions, Baltimore, Maryland 21287-0807, USA
Pediatr Neurol 27:117-22. 2002..This pattern differs from those described in Down syndrome, autism, and Alzheimer's disease...
- Inhibition of peroxisomal functions due to oxidative imbalance induced by mistargeting of catalase to cytoplasm is restored by vitamin E treatment in skin fibroblasts from Zellweger syndrome-like patientsYasusada Kawada
Department of Pediatrics, University of Occupational and Environmental Health, Kitakyushu, Japan
Mol Genet Metab 83:297-305. 2004..These findings open a novel approach for therapeutic treatment of certain peroxisomal disorders where gene or hypothermic therapies are not an option...
- Magnetic resonance spectroscopy: a new guide for the therapy of adrenoleukodystrophyHugo W Moser
Neurology 64:406-7. 2005
- Alexander disease: combined gene analysis and MRI clarify pathogenesis and extend phenotypeHugo W Moser
Ann Neurol 57:307-8. 2005
- Adrenal insufficiency in asymptomatic adrenoleukodystrophy patients identified by very long-chain fatty acid screeningPrachi Dubey
Division of Neurogenetics, Kennedy Krieger Institute, Johns Hopkins University, 707 North Broadway, Baltimore, MD 21205, USA
J Pediatr 146:528-32. 2005..It manifests early and before onset of neurologic symptoms, suggesting X-ALD as a candidate disorder for neonatal screening...
- Cerebral X-linked adrenoleukodystrophy in a girl with Xq27-Ter deletionEli Hershkovitz
Pediatric Department, Soroka University Medical Centre, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel
Ann Neurol 52:234-7. 2002..A bone marrow transplant had an apparently favorable effect. Cytogenetic studies should be performed in all severely symptomatic X-linked adrenoleukodystrophy heterozygotes...
- Magnetization transfer weighted imaging in the upper cervical spinal cord using cerebrospinal fluid as intersubject normalization reference (MTCSF imaging)Seth A Smith
F. M. Kirby Center for Functional Brain Imaging, Kennedy Krieger Institute, Baltimore, Maryland 21205, USA
Magn Reson Med 54:201-6. 2005..As a first example, this is demonstrated for the noninflammatory spinal cord white matter disease adrenomyeloneuropathy...
- Proton MR spectroscopic and diffusion tensor brain MR imaging in X-linked adrenoleukodystrophy: initial experienceFlorian S Eichler
F. M. Kirby Research Center for Functional Brain Imaging, Johns Hopkins University, Baltimore, MD, USA
Radiology 225:245-52. 2002....
- Multicenter Therapeutic Trials of X-Linked ALDHugo Moser; Fiscal Year: 2005....
- Multicenter Therapeutic Trails of X-Linked ALD SupplementHugo Moser; Fiscal Year: 2005..This would facilitate and speed the evaluation of all therapeutic interventions in AMN. These techniques may also be applicable to the study of other spinal cord disorders. ..
- THERAPEUTIC TRIALS OF X-LINKED ALD: PHASE III; LORENZO*Hugo Moser; Fiscal Year: 2006..It is now recognized that 50% of heterozygous develop pure AMN which may lead to considerable disability. This is the first therapeutic study that also involves women heterozygous for X-ALD. ..