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| R SchiffmannSummaryAffiliation: National Institutes of Health Country: USA Publications
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Publications
Fabry's disease--an important risk factor for strokeRaphael Schiffmann
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
Lancet 366:1754-6. 2005
Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosingRaphael Schiffmann
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, Room 3D03, 9000 Rockville Pike, Bethesda, MD 20892 1260, USA
J Am Soc Nephrol 18:1576-83. 2007..2 mg/kg may be beneficial in the subgroup of patients who have Fabry disease and whose kidney function continues to decline after 2 to 4 yr or more of standard EOW dosing...- Enzyme replacement reverses abnormal cerebrovascular responses in Fabry diseaseDavid F Moore
Developmental and Metabolic Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
BMC Neurol 2:4. 2002..Fabry disease is a lysosomal X-linked enzyme deficiency of alpha-galactosidase A associated with an increased mortality and morbidity due to renal failure, cardiac disease and early onset stroke... - Arterial wall properties and Womersley flow in Fabry diseaseDavid F Moore
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
BMC Cardiovasc Disord 2:1. 2002..Previous venous plethysomographic studies suggest enhanced endothelium-dependent vasodilation in Fabry disease indicating a functional abnormality of resistance vessels... - New prospects for the treatment of lysosomal storage diseasesRaphael Schiffmann
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892 1260, USA
Drugs 62:733-42. 2002..Gene therapy for lysosomal storage disorders holds promise as a replacement for the other therapies described here but requires much more development before clinical efficacy trials... - Natural history of Fabry disease in males: preliminary observationsR Schiffmann
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 1260, USA
J Inherit Metab Dis 24:15-7; discussion 11-2. 2001..Renal outcome was related to the type of mutation and residual enzyme activity. Data from these studies in untreated patients will be important when assessing the long-term efficacy of enzyme replacement therapy... - Neuropathy and Fabry disease: pathogenesis and enzyme replacement therapyRaphael Schiffmann
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892 1260, USA
Acta Neurol Belg 106:61-5. 2006..Improvement in sweating and heat tolerance is also noted following ERT. Despite those positive results, ERT does not normalize the function of the peripheral nervous system... - Enzyme replacement therapy and intraepidermal innervation density in Fabry diseaseRaphael Schiffmann
Developmental and Metabolic Neurology Branch, NINDS, National Institutes of Health, Bldg 10, Room 3D03, 9000 Rockville Pike, Bethesda, Maryland 20892, USA
Muscle Nerve 34:53-6. 2006..Thermal thresholds remained unchanged. We conclude that epidermal nerve fiber regeneration, as measured in the distal thigh, does not occur in this patient population after 12-18 months of ERT... - Childhood ataxia with CNS hypomyelination/vanishing white matter disease--a common leukodystrophy caused by abnormal control of protein synthesisRaphael Schiffmann
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
Mol Genet Metab 88:7-15. 2006..Future research will be directed towards understanding why abnormal control of protein translation predominantly affects brain glial cells... - Decreased bone density in splenectomized Gaucher patients receiving enzyme replacement therapyRaphael Schiffmann
Developmental and Metabolic Branch, National Institutes of Health, Bethesda, Maryland 20892, USA
Blood Cells Mol Dis 28:288-96. 2002..Alternatively, measuring trabecular bone density may be an inadequate marker of clinical efficacy for treating skeletal involvement in Gaucher disease... - Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacementRaphael Schiffmann
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
Virchows Arch 448:337-43. 2006..These findings also illustrate accelerated atherosclerosis in susceptible patients with Fabry disease... - Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion settingRaphael Schiffmann
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke National Institutes of Health, Bethesda, MD 20892 1260, USA
Nephrol Dial Transplant 21:345-54. 2006..Our objective is to describe the safety and renal effects of long-term enzyme replacement therapy... - Pathophysiology and assessment of neuropathic pain in Fabry diseaseR Schiffmann
Developmental and Metabolic Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 1260, USA
Acta Paediatr Suppl 91:48-52. 2002..In future, therefore, it is likely that neuropathic pain, quantitative sensory testing and hypohidrosis will serve as clinical outcome measures for studies of specific and effective therapies for Fabry disease... - An update on the leukodsytrophiesR Schiffmann
National Institutes of Health, Building 10, Room 3D03, 9000 Rockville Pike, Bethesda, MD 20892 1260, USA
Curr Opin Neurol 14:789-94. 2001..These, along with five other disorders, including leukodystrophy with polyol metabolism abnormality, demonstrate that an increasing number of protein and metabolic abnormalities can cause primary myelin disorders... - Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry diseaseRaphael Schiffmann
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke National Institutes of Health, Building 10, Room 3D03, 9000 Rockville Pike, Bethesda, MD 20892 1260, USA
Muscle Nerve 28:703-10. 2003..QSART may be useful to further optimize the dose and frequency of ERT... - Enzyme replacement therapy in Fabry disease: a randomized controlled trialR Schiffmann
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, Bldg 10, Room 3D03, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892 1260, USA
JAMA 285:2743-9. 2001..Most patients experience debilitating neuropathic pain and premature mortality because of renal failure, cardiovascular disease, or cerebrovascular disease... - Enzyme replacement therapy in Fabry diseaseR O Brady
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 1260, USA
J Inherit Metab Dis 24:18-24; discussion 11-2. 2001..These findings show that enzyme replacement therapy offers promise as an effective management strategy for patients with Fabry disease... - Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry diseaseR Schiffmann
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 1260, USA
Proc Natl Acad Sci U S A 97:365-70. 2000..Taken together, these results suggest that enzyme replacement is likely to be an effective therapy for patients with this metabolic disorder... - Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapyD F Moore
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, Clinical Center, National Institutes of Health, Bethesda, MD 20892-1260, USA
Circulation 104:1506-12. 2001..CONCLUSIONS: These findings suggest a chronic alteration of the nitric oxide pathway in Fabry disease, with critical protein nitration that is reversible with enzyme replacement therapy... - Neuropathic and cerebrovascular correlates of hearing loss in Fabry diseaseM Ries
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 1260, USA
Brain 130:143-50. 2007..Our quantitative analysis suggests a correlation of neuropathic and vascular damage with hearing loss in the males. Residual GALA activity appears to have a protective effect against hearing loss... - Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3W S Benko
Metabolic Neurology Branch, NINDS, National Institutes of Health, Bethesda, MD, USA
Neurology 70:976-8. 2008 - Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry diseaseG M Altarescu
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD, USA
Clin Genet 60:46-51. 2001..01) and in patients with mutations leading to a nonconservative amino acid change (p=0.04). Our findings emphasize the wide variety of genetic mechanisms leading to Fabry disease. A significant genotype-phenotype relationship was found... - The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's diseaseG Altarescu
Developmental and Metabolic Neurology Branch, Biometry and Fields Studies Branch, National Institute of Neurological Disorders and Stroke, W. G. Magnuson Clinical Center, National Institutes of Health, Bethesda 20892-1260, Maryland, USA
J Pediatr 138:539-47. 2001..Most treated patients do not deteriorate neurologically. Novel therapeutic strategies are required to reverse the pulmonary and neuronopathic aspects of the disease... - Parkinsonism among Gaucher disease carriersO Goker-Alpan
Section on Molecular Neurogenetics, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892 3708, USA
J Med Genet 41:937-40. 2004..Understanding the relationship between altered glucocerebrosidase and the development of parkinsonian manifestations will provide insights into the genetics, pathogenesis, and treatment of Parkinson disease... - Selective arterial distribution of cerebral hyperperfusion in Fabry diseaseD F Moore
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10 Room 3D03, 9000 Rockville Pike, Bethesda, MD 20892-1260, USA
J Neuroimaging 11:303-7. 2001..The data demonstrated that the posterior circulation is the predominant arterial territory with a significantly increased rCBF in Fabry disease. No arterial distribution had a decreased rCBF... - Somatosensory evoked potentials as a marker of disease burden in type 3 Gaucher diseaseM A Garvey
Human Motor Control Section, Medical Neurology Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA
Neurology 56:391-4. 2001..The authors conclude that abnormal cortical inhibition is a unifying feature of GD3 patients and correlates with the degree of cognitive deficit... - Constitutive achlorhydria in mucolipidosis type IVR Schiffmann
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
Proc Natl Acad Sci U S A 95:1207-12. 1998.... - Enzyme replacement in Fabry disease: pharmacokinetics and pharmacodynamics of agalsidase alpha in children and adolescentsMarkus Ries
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, Room 3D03, 9000 Rockville Pike, Bethesda, MD 20892 1260, USA
J Clin Pharmacol 47:1222-30. 2007..Except for clearance in younger patients, agalsidase alpha appears to have comparable pharmacokinetic and pharmacodynamic profiles in pediatric and adult Fabry patients of both genders... - Physiological characterization of neuropathy in Fabry's diseaseCarlos A Luciano
Electromyography Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bldg 10, Rm 3D03, 9000 Rockville Pike, Bethesda, Maryland 20892 1260, USA
Muscle Nerve 26:622-9. 2002.... - Enhanced endothelium-dependent vasodilation in Fabry diseaseG Altarescu
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-1260, USA
Stroke 32:1559-62. 2001..The increased vessel response to acetylcholine with and without L-NMMA suggests altered functionality of non-NO endothelium-dependent vasodilatory pathways... - Myeloperoxidase predicts risk of vasculopathic events in hemizgygous males with Fabry diseaseC R Kaneski
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke National Institutes of Health, Bethesda, MD 20892 1260, USA
Neurology 67:2045-7. 2006..Long-term enzyme replacement therapy did not reduce myeloperoxidase level or eliminate the risk of vasculopathic events... - Evidence for neuroaxonal injury in patients with proteolipid protein gene mutationsS Bonavita
Neuroimaging Branch, National Institutes of Health, Bethesda, MD 20892-1260, USA
Neurology 56:785-8. 2001..The authors conclude that PLP mutations cause neuroaxonal injury, which in turn contributes to the neurologic deficit observed in these patients... - Mucolipidosis IV consists of one complementation groupE Goldin
Developmental Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20982 1260, USA
Proc Natl Acad Sci U S A 96:8562-6. 1999..These results indicate that all of our known MLIV patients, regardless of ancestry or severity of the developmental defect, have a single mutated gene... - Pediatric Fabry diseaseMarkus Ries
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, Room 3D03, Bethesda, MD 20892 1260, USA
Pediatrics 115:e344-55. 2005..Fabry disease is an underdiagnosed, treatable, X-linked, multisystem disorder... - The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous womenSurya Gupta
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-1260, USA
Medicine (Baltimore) 84:261-8. 2005..Useful outcome measures for assessment of specific therapies need to be developed. Studies limited to homogeneously affected subjects may be possible... - Enzyme-replacement therapy for metabolic storage disordersRoscoe O Brady
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892 1260, USA
Lancet Neurol 3:752-6. 2004..This example has prompted the investigation of ERT for several other metabolic disorders. The results of several of these trials have recently been published... - Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IVEhud Goldin
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland 20892 1260, USA
Hum Mutat 24:460-5. 2004..This is the first report of an inherited transfer of mitochondrial nuclear DNA causing a genetic disease. The elimination of the splice site by the mitochondrial DNA requires a change in splicing prediction models... - Parapelvic kidney cysts: a distinguishing feature with high prevalence in Fabry diseaseMarkus Ries
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892 1260, USA
Kidney Int 66:978-82. 2004..In order to identify key novel renal diagnostic imaging features of Fabry disease, we conducted a cross sectional case-control study of kidney involvement in patients with Fabry disease... - Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical courseMary H Branton
Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Disease, National Institutes of Health, Bethesda, Maryland 20892-1268, USA
Medicine (Baltimore) 81:122-38. 2002 - Electroencephalographic findings in patients with mucolipidosis type IVH Siegel
EEG Section and Developmental and Metabolic Neurology Branch, NINDS, NIH, Bethesda, MD 20892, USA
Electroencephalogr Clin Neurophysiol 106:400-3. 1998..Most patients are of Ashkenazi-Jewish ancestry. The EEG findings in this syndrome have not been characterized... - Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease miceT Ohshima
Functional Genomics Unit, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA
Proc Natl Acad Sci U S A 96:6423-7. 1999..These findings suggest that BMT may have a potential role in the management of patients with Fabry disease... - The neurogenetics of mucolipidosis type IVG Altarescu
Developmental and Metabolic Neurology Branch, National Institute of Neurologic Disorders and Stroke NIH, 9000 Rockville Pike, Building 10, Rm 3D03, Bethesda, MD 20892 1260, USA
Neurology 59:306-13. 2002..Mucolipidosis type IV (MLIV) is an autosomal recessive disease caused by mutations in the MCOLN1 gene that codes for mucolipin, a member of the transient receptor potential (TRP) gene family... - Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontiaM Timmons
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-1260, USA
Neurology 67:2066-9. 2006..Reduced galactocerebroside, sphingomyelin, and GM1-N-acetylglucosamine and increased esterified cholesterol were found. This is a clinically homogeneous progressive hypomyelinating disorder. The term 4H syndrome is suggested... - Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacementDavid F Moore
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda Md 20892-1260, USA
Stroke 33:525-31. 2002..CONCLUSIONS: Patients with Fabry disease have elevated cerebral blood flow velocities. These velocities significantly improved with enzyme replacement therapy... - Natural history and treatment of renal involvement in Fabry diseaseMary Branton
Kidney Disease Section, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
J Am Soc Nephrol 13:S139-43. 2002 - Cellular and tissue distribution of intravenously administered agalsidase alfaGary J Murray
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
Mol Genet Metab 90:307-12. 2007..We conclude that intravenously injected agalsidase alfa has a very heterogeneous systemic distribution using an immunostaining technique... - Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationshipK H Kraemer
DNA Repair Section, Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, Building 37 Room 4002 MSC 4258, Bethesda, MD 20892 4258, USA
Neuroscience 145:1388-96. 2007.... - Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?N Tayebi
Section on Molecular Neurogenetics, NIMH, NHGRI, NIH, 49 Convent Drive MSC4405, 49 B1EE16, Bethesda, MD 20892 4405, USA
Mol Genet Metab 79:104-9. 2003..The shared clinical and neuropathologic findings in this subgroup suggest that the deficiency in glucocerebrosidase may contribute to a vulnerability to parkinsonism... - Elevated CNS average diffusion constant in Fabry diseaseD F Moore
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, Clinical Center, National Institutes of Health, Bethesda, MD 20892-1260, USA
Acta Paediatr Suppl 91:67-8. 2002..029) CONCLUSIONS: The elevated Dav indicates increased brain tissue water diffusivity in patients with Fabry disease, a finding consistent with increased extracellular water and increased cerebral blood flow... - Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapyRaphael Schiffmann
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke National Institutes of Health, Bethesda, MD, USA
Nephrol Dial Transplant 24:2102-11. 2009..In Fabry disease, progressive glycolipid accumulation leads to organ damage and early demise, but the incidence of renal, cardiac and cerebrovascular events has not been well characterized... - Enzyme-replacement therapy with agalsidase alfa in children with Fabry diseaseMarkus Ries
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892-1260, USA
Pediatrics 118:924-32. 2006..Prospective long-term studies are needed to assess whether enzyme replacement initiated early in patients with Fabry disease is able to prevent major organ failure in adulthood... - Cellular and tissue localization of globotriaosylceramide in Fabry diseaseHasan Askari
Developmental and Metabolic Neurology Branch, NINDS, National Institutes of Health, Building 10, Room 3D03, 9000 Rockville Pike, Bethesda, MD 20892 1260, USA
Virchows Arch 451:823-34. 2007..These findings are crucial for the understanding of the disease mechanism and suggest the usefulness of immunostaining for globotriaosylceramide as a means to assess response to novel, specific therapies... - Establishment and characterization of Fabry disease endothelial cells with an extended lifespanJin Song Shen
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, Room 3D04, 9000 Rockville Pike, Bethesda, MD 20892 1260, USA
Mol Genet Metab 92:137-44. 2007..This cell line will provide a useful in vitro model of Fabry disease and will facilitate systematic studies to investigate pathogenic mechanisms and explore new therapeutic approaches for Fabry disease... - White matter lesions in Fabry disease occur in 'prior' selectively hypometabolic and hyperperfused brain regionsDavid F Moore
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, Building 10, Room 3D03, 9000 Rockville Pike, Bethesda, MD 20892-1260, USA
Brain Res Bull 62:231-40. 2003..We conclude that the elevated rCBF and decreased white matter rCMRGlu indicates a dissociation between metabolism and blood flow suggesting chronic deep white matter metabolic insufficiency... - Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroupJoseph K Park
Clinical Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland, USA
Pediatr Res 53:387-95. 2003..Thus, although there were certain shared mutant alleles found in these patients, both the lack of a shared genotype and the variability in clinical presentations suggest that other modifiers must contribute to this rare phenotype... 
Cognitive outcome in treated patients with chronic neuronopathic Gaucher diseaseOzlem Goker-Alpan
Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA
J Pediatr 153:89-94. 2008..To investigate the spectrum and prevalence of cognitive deficits among children with type 3 (chronic neuronopathic) Gaucher disease (GD)...- Oral and craniofacial findings in Fabry's disease: a report of 13 patientsL Baccaglini
National Institute of Dental and Craniofacial Research, National Insitutes of Health, Bethesda, MD, USA
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 92:415-9. 2001..The purpose of this study was to assess oral and craniofacial findings in a cohort of patients with Fabry's disease to facilitate recognition of this condition and early treatment of its manifestations... - Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry diseaseDavid F Moore
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, 9000 Rockville Pike, Bethesda, MD 20892, USA
AJNR Am J Neuroradiol 24:1096-101. 2003..The finding of isolated pulvinar hyperintensity on T1-weighted images should suggest Fabry disease, particularly when seen in conjunction with other nonspecific neuroradiologic manifestations of the disease... - Screening for pharmacological chaperones in Fabry diseaseSang Hoon Shin
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, 10 Center Drive, Building 10, Room 3D04, MSC 1260, Bethesda, MD 20892 1260, USA
Biochem Biophys Res Commun 359:168-73. 2007..This assay method has general utility in other disorders in assessing the degree of enhancement of activity of mutated proteins by PCT... - Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperoneSang H Shin
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke NIH, Bethesda, MD 20892, USA
Pharmacogenet Genomics 18:773-80. 2008..To examine the relationship between types and locations of mutations of the enzyme alpha-galactosidase (Gal) A in Fabry disease and the response to the pharmacological chaperone 1-deoxygalactonojirimycin (DGJ)... - Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cellsJin Song Shen
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, Maryland, USA
Mol Genet Metab 95:163-8. 2008..In addition, other factors in patient's plasma may also contribute to oxidative stress in Fabry vascular endothelial cells... - The latest on leukodystrophiesRaphael Schiffmann
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA
Curr Opin Neurol 17:187-92. 2004..An update is also given for adrenoleukodystrophy and myelin-protein-related disorders. This update demonstrates that an increasing number of genetic defects are being identified that may cause primary white-matter disorders... - Randomized, controlled trial of miglustat in Gaucher's disease type 3Raphael Schiffmann
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, Bethesda, MD 75226, USA
Ann Neurol 64:514-22. 2008..To evaluate the efficacy and safety of miglustat, concomitant with enzyme replacement therapy (ERT), in patients with Gaucher's disease type 3 (GD3)... - Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channelM Sun
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA
Hum Mol Genet 9:2471-8. 2000..The role of a potential receptor-stimulated cation channel defect in the pathogenesis of mucolipidosis IV is discussed... - Noninvasive diagnosis and ophthalmic features of mucolipidosis type IVJanine A Smith
National Eye Institute, National Institutes of Health, 10 Center Drive, MSC 1857, Bethesda, MD 20892, USA
Ophthalmology 109:588-94. 2002..CONCLUSIONS: Patients with mucolipidosis type IV have characteristic ophthalmic features, most of which have a progressive course. Conjunctival cytologic studies help confirm the diagnosis of this disorder... - Isolated ocular disease is associated with decreased mucolipin-1 channel conductanceEhud Goldin
Molecular Neurogenetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
Invest Ophthalmol Vis Sci 49:3134-42. 2008..To evaluate a 15-year-old boy with MLIV (mucolipidosis type IV) and clinical abnormalities restricted to the eye who also had achlorhydria with elevated blood gastrin levels... - Improved intracellular delivery of glucocerebrosidase mediated by the HIV-1 TAT protein transduction domainKyun Oh Lee
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, Room 3D04, Bethesda, MD 20892, USA
Biochem Biophys Res Commun 337:701-7. 2005..Thus, TAT-modified GCs represent a novel strategy for a new generation of therapeutic enzymes for ERT for Gaucher disease... - Images in clinical medicine. Fabry's diseaseJeffrey B Kopp
National Institutes of Health, Bethesda, MD 20892, USA
N Engl J Med 349:e20. 2003 - Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3Ozlem Goker-Alpan
Section on Molecular Neurogenetics, NIMH/NIH, 49 Convent Drive, MSC 4405, Bethesda, MD 20892-4405, USA
J Pediatr 143:273-6. 2003..There was genotypic heterogeneity among these patients... - Quantitative dysmorphology assessment in Fabry diseaseMarkus Ries
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-1260, USA
Genet Med 8:96-101. 2006..Some of these features are subtle as documented by the inter-rater variability. Awareness of these features may facilitate the diagnosis of patients with Fabry disease, and identification of affected family members... - Elevated endothelial microparticles in Fabry children decreased after enzyme replacement therapyMonique P Gelderman
Arterioscler Thromb Vasc Biol 27:e138-9. 2007 - Gaucher mutation N188S is associated with myoclonic epilepsyLaurence Kowarz
Hum Mutat 26:271-3; author reply 274-5. 2005..quot; Our clinical experience with patients carrying this mutation and preliminary protein modeling data lead us to dispute this conclusion... - Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging studyDavid F Moore
Section of Neurology, Department of Internal Medicine, University of Manitoba, Canada
J Magn Reson Imaging 20:674-83. 2004..These abnormalities were improved by ERT. These observations have implications regarding oxidative processes contributing to accelerated atherosclerosis in Fabry disease... - Enzyme replacement therapy in orphan and ultra-orphan diseases: the limitations of standard economic metrics as exemplified by Fabry-Anderson diseaseDavid F Moore
Section of Neurology and Section of Proteomics and System Biology, University of Manitoba, Winnipeg, Manitoba, Canada
Pharmacoeconomics 25:201-8. 2007..The variable clinical efficacy and cost of ERT has resulted in reluctance by some health providers to approve it... - Apoptotic abnormalities in differential gene expression in peripheral blood mononuclear cells from children with Fabry diseaseDavid F Moore
Section of Neurology, University of Manitoba, Winnipeg, Canada
Acta Paediatr Suppl 97:48-52. 2008..This study was designed to examine the effect of enzyme replacement therapy (ERT) on differential gene expression in peripheral blood mononuclear cells (PBMCs) of children with Fabry disease who had not previously been exposed to ERT... - Fabry disease: angiokeratoma, biomarker, and the effect of enzyme replacement therapy on kidney functionMarkus Ries
Arch Dermatol 141:904-5; author reply 905-6. 2005 - Enzyme replacement in Fabry disease: the essence is in the kidneyRaphael Schiffmann
Ann Intern Med 146:142-4. 2007 - Enhanced calcium release in the acute neuronopathic form of Gaucher diseaseDori Pelled
Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
Neurobiol Dis 18:83-8. 2005..These findings suggest that defective calcium homeostasis may be a mechanism responsible for neuropathophysiology in acute neuronopathic Gaucher disease, and may potentially offer new therapeutic approaches for disease management... - Genetic and clinical heterogeneity in eIF2B-related disorderJelena Maletkovic
Children s National Medical Center, Children s Research Institute, Center for Genetic Medicine, Washington, DC 20010, USA
J Child Neurol 23:205-15. 2008.... - Neuropathology provides clues to the pathophysiology of Gaucher diseaseKondi Wong
Department of Neuropathology at the Armed Forces Institute of Pathology, Washington, DC, USA
Mol Genet Metab 82:192-207. 2004..These findings argue for a common cytotoxic mechanism linking aberrant glucocerebrosidase activity, neuronal cytotoxicity, and cytotoxic Lewy body formation in GD... - New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellumMarjo S van der Knaap
Department of Child Neurology, Free University Medical Center, PO Box 7057, 1007 MB Amsterdam, The Netherlands
AJNR Am J Neuroradiol 23:1466-74. 2002..The acronym H-ABC is offered to indicate patients sharing these clinical and MR imaging features... - Insertion of mutant proteolipid protein results in missorting of myelin proteinsCatherine Vaurs-Barriere
National Institute of Health and Medical Research U384, Clermont-Ferrand, France
Ann Neurol 54:769-80. 2003..We conclude that insertion of mutant PLP/DM20 with resulting aberrant distribution of other myelin proteins in peripheral nerve may constitute an important mechanism of dysmyelination in disorders associated with PLP mutations... - Fabry disease and vascular risk factors: future strategies for patient-based studies and the knockout murine modelDavid F Moore
Section of Neurology, University of Manitoba, Winnipeg, Canada
Acta Paediatr Suppl 95:69-71. 2006.... - Effect of genetic modifiers on cerebral lesions in Fabry diseaseGheona Altarescu
Department of Internal Medicine, Shaare Zedek Medical Center, Jerusalem, Israel
Neurology 64:2148-50. 2005..These findings suggest that these proteins modulate Fabry cerebral vasculopathy... - Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patientsLiraz Kantor
Department of Cell Research and Immunology, George S Wise Faculty of Life Sciences, Tel Aviv University, Tel Aviv, 69978, Israel
Hum Genet 118:99-106. 2005..This heightened stress response observed in primary fibroblasts that suffer from minor loss of basal eIF2B activity may be employed as an initial screening tool for CACH/VWM leukodystrophy... - The significance of lysosomal inclusions in Fabry diseaseRaphael Schiffmann
Virchows Arch 449:134. 2006 - Lamin B1 duplications cause autosomal dominant leukodystrophyQuasar S Padiath
Department of Neurology, University of California, San Francisco, San Francisco, California 94158, USA
Nat Genet 38:1114-23. 2006..This raises the possibility that lamin B may be a link to the autoimmune attack that occurs in multiple sclerosis... - PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1Patricia Combes
INSERM U 384, Faculte de Medecine, Place Henri Dunant, 63000 Clermont Ferrand, France
Neurogenetics 7:31-7. 2006.... - Myoclonus in Gaucher diseaseKaren P Frei
Parkinson's and Movement Disorders Institute, Fountain Valley, California, USA
Adv Neurol 89:41-8. 2002 - Diffuse neuroaxonal involvement in mucolipidosis IV as assessed by proton magnetic resonance spectroscopic imagingSimona Bonavita
Second Division of Neurology, Second University of Naples, Italy
J Child Neurol 18:443-9. 2003..Mucolipin deficiency impairs motor more than sensory central nervous system pathways... - Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalitiesDavid F Moore
Section of Neurology, Manitoba Center for Proteomics and System Biology, University of Manitoba, Winnipeg, Ontario, Canada R3C 4J5
Proc Natl Acad Sci U S A 104:2873-8. 2007..We demonstrated the feasibility of identifying treatment-specific alterations in a small number of subjects that point to previously unsuspected disease-related biological abnormalities... - Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevationGert C Scheper
Department of Pediatrics and Child Neurology, Vrije University Medical Center, 1081 HV Amsterdam, The Netherlands
Nat Genet 39:534-9. 2007..Enzyme activities of mutant proteins were decreased. We were surprised to find that activities of mitochondrial complexes from fibroblasts and lymphoblasts derived from affected individuals were normal, as determined by different assays... - Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locusAnne Fogli
Institut National de la Santé et de la Recherche Médicale UMR 384, Facultéde Médecine, Clermont Ferrand, France
Ann Neurol 52:506-10. 2002..In three patients of two Cree families, we found a homozygous missense mutation resulting in a histidine substitution at arginine 195 of epsilon-eIF2B... - Genomic abnormalities of the murine model of Fabry disease after disease-related perturbation, a systems biology approachDavid F Moore
Section of Neurology, University of Manitoba, Winnipeg, MB, Canada R3T 2N2
Proc Natl Acad Sci U S A 104:8065-70. 2007..These abnormalities form the basis for informed, in a Bayesian sense, sequential, hypothesis-driven research that can be subsequently tested experimentally...