R Schiffmann

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. ncbi request reprint Fabry's disease--an important risk factor for stroke
    Raphael 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
  2. pmc Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing
    Raphael 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
  3. pmc Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease
    David 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
  4. pmc Arterial wall properties and Womersley flow in Fabry disease
    David 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
  5. ncbi request reprint New prospects for the treatment of lysosomal storage diseases
    Raphael 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
  6. ncbi request reprint Natural history of Fabry disease in males: preliminary observations
    R 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
  7. ncbi request reprint Neuropathy and Fabry disease: pathogenesis and enzyme replacement therapy
    Raphael 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
  8. ncbi request reprint Enzyme replacement therapy and intraepidermal innervation density in Fabry disease
    Raphael 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
  9. ncbi request reprint Childhood ataxia with CNS hypomyelination/vanishing white matter disease--a common leukodystrophy caused by abnormal control of protein synthesis
    Raphael 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
  10. ncbi request reprint Decreased bone density in splenectomized Gaucher patients receiving enzyme replacement therapy
    Raphael Schiffmann
    Developmental and Metabolic Branch, National Institutes of Health, Bethesda, Maryland 20892, USA
    Blood Cells Mol Dis 28:288-96. 2002

Collaborators

Detail Information

Publications94

  1. ncbi request reprint Fabry's disease--an important risk factor for stroke
    Raphael 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
  2. pmc Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing
    Raphael 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...
  3. pmc Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease
    David 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...
  4. pmc Arterial wall properties and Womersley flow in Fabry disease
    David 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...
  5. ncbi request reprint New prospects for the treatment of lysosomal storage diseases
    Raphael 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...
  6. ncbi request reprint Natural history of Fabry disease in males: preliminary observations
    R 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...
  7. ncbi request reprint Neuropathy and Fabry disease: pathogenesis and enzyme replacement therapy
    Raphael 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...
  8. ncbi request reprint Enzyme replacement therapy and intraepidermal innervation density in Fabry disease
    Raphael 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...
  9. ncbi request reprint Childhood ataxia with CNS hypomyelination/vanishing white matter disease--a common leukodystrophy caused by abnormal control of protein synthesis
    Raphael 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...
  10. ncbi request reprint Decreased bone density in splenectomized Gaucher patients receiving enzyme replacement therapy
    Raphael 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...
  11. pmc Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement
    Raphael 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...
  12. ncbi request reprint Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting
    Raphael 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...
  13. ncbi request reprint Pathophysiology and assessment of neuropathic pain in Fabry disease
    R 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
    ..Improvement in neuropathic pain as a primary outcome measure has been useful in demonstrating that enzyme replacement therapy is effective in improving pain-related quality of life in Fabry disease...
  14. ncbi request reprint An update on the leukodsytrophies
    R 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...
  15. ncbi request reprint Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease
    Raphael 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...
  16. ncbi request reprint Enzyme replacement therapy in Fabry disease: a randomized controlled trial
    R 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...
  17. ncbi request reprint Enzyme replacement therapy in Fabry disease
    R 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...
  18. pmc Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease
    R 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...
  19. ncbi request reprint Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy
    D 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...
  20. pmc Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease
    M 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...
  21. doi request reprint Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3
    W S Benko
    Metabolic Neurology Branch, NINDS, National Institutes of Health, Bethesda, MD, USA
    Neurology 70:976-8. 2008
  22. ncbi request reprint Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease
    G 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...
  23. ncbi request reprint The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease
    G 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...
  24. pmc Parkinsonism among Gaucher disease carriers
    O 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...
  25. ncbi request reprint Selective arterial distribution of cerebral hyperperfusion in Fabry disease
    D 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...
  26. ncbi request reprint Somatosensory evoked potentials as a marker of disease burden in type 3 Gaucher disease
    M 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...
  27. pmc Constitutive achlorhydria in mucolipidosis type IV
    R 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
    ....
  28. ncbi request reprint Enzyme replacement in Fabry disease: pharmacokinetics and pharmacodynamics of agalsidase alpha in children and adolescents
    Markus 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...
  29. ncbi request reprint Physiological characterization of neuropathy in Fabry's disease
    Carlos 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
    ....
  30. ncbi request reprint Enhanced endothelium-dependent vasodilation in Fabry disease
    G 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...
  31. pmc Myeloperoxidase predicts risk of vasculopathic events in hemizgygous males with Fabry disease
    C 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...
  32. ncbi request reprint Evidence for neuroaxonal injury in patients with proteolipid protein gene mutations
    S 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...
  33. pmc Mucolipidosis IV consists of one complementation group
    E 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...
  34. ncbi request reprint Pediatric Fabry disease
    Markus 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...
  35. ncbi request reprint The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women
    Surya 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...
  36. ncbi request reprint Enzyme-replacement therapy for metabolic storage disorders
    Roscoe 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...
  37. ncbi request reprint Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV
    Ehud 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...
  38. ncbi request reprint Parapelvic kidney cysts: a distinguishing feature with high prevalence in Fabry disease
    Markus 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...
  39. ncbi request reprint Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course
    Mary 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
  40. ncbi request reprint Electroencephalographic findings in patients with mucolipidosis type IV
    H 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...
  41. pmc Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease mice
    T 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...
  42. ncbi request reprint The neurogenetics of mucolipidosis type IV
    G 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...
  43. ncbi request reprint Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement
    David 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
    ..We assessed transcranial Doppler (TCD) blood flow velocities in naive and enzyme-treated Fabry patients...
  44. ncbi request reprint Natural history and treatment of renal involvement in Fabry disease
    Mary 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
  45. pmc Cellular and tissue distribution of intravenously administered agalsidase alfa
    Gary 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...
  46. pmc Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia
    M 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...
  47. pmc Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship
    K 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
    ....
  48. ncbi request reprint 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...
  49. ncbi request reprint Elevated CNS average diffusion constant in Fabry disease
    D 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
    ..Evaluation of the average brain diffusion constant in Fabry disease...
  50. pmc Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy
    Raphael 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...
  51. ncbi request reprint Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease
    Markus 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
    ..This prompted a study of the safety and efficacy of enzyme replacement at an earlier stage of Fabry disease...
  52. ncbi request reprint Cellular and tissue localization of globotriaosylceramide in Fabry disease
    Hasan 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...
  53. pmc Establishment and characterization of Fabry disease endothelial cells with an extended lifespan
    Jin 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...
  54. ncbi request reprint White matter lesions in Fabry disease occur in 'prior' selectively hypometabolic and hyperperfused brain regions
    David 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...
  55. ncbi request reprint Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup
    Joseph 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...
  56. ncbi request reprint Cognitive outcome in treated patients with chronic neuronopathic Gaucher disease
    Ozlem 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)...
  57. ncbi request reprint Oral and craniofacial findings in Fabry's disease: a report of 13 patients
    L 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...
  58. ncbi request reprint Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry disease
    David 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
    ..We sought to describe novel neuroimaging characteristics of Fabry disease...
  59. pmc Screening for pharmacological chaperones in Fabry disease
    Sang 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...
  60. pmc Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone
    Sang 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)...
  61. pmc Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells
    Jin 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...
  62. ncbi request reprint The latest on leukodystrophies
    Raphael 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
    ..Important advances in our understanding of genetic disorders of the white matter have been made and are discussed here...
  63. pmc Randomized, controlled trial of miglustat in Gaucher's disease type 3
    Raphael 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)...
  64. ncbi request reprint Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel
    M 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...
  65. ncbi request reprint Noninvasive diagnosis and ophthalmic features of mucolipidosis type IV
    Janine A Smith
    National Eye Institute, National Institutes of Health, 10 Center Drive, MSC 1857, Bethesda, MD 20892, USA
    Ophthalmology 109:588-94. 2002
    ..To comprehensively describe the ophthalmic characteristics of patients with mucolipidosis type IV...
  66. doi request reprint Isolated ocular disease is associated with decreased mucolipin-1 channel conductance
    Ehud 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...
  67. ncbi request reprint Improved intracellular delivery of glucocerebrosidase mediated by the HIV-1 TAT protein transduction domain
    Kyun 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...
  68. ncbi request reprint Images in clinical medicine. Fabry's disease
    Jeffrey B Kopp
    National Institutes of Health, Bethesda, MD 20892, USA
    N Engl J Med 349:e20. 2003
  69. ncbi request reprint Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3
    Ozlem 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...
  70. ncbi request reprint Quantitative dysmorphology assessment in Fabry disease
    Markus 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
    ..2) To devise a quantitative method to evaluate dysmorphic abnormalities in Fabry disease...
  71. ncbi request reprint Elevated endothelial microparticles in Fabry children decreased after enzyme replacement therapy
    Monique P Gelderman
    Arterioscler Thromb Vasc Biol 27:e138-9. 2007
  72. ncbi request reprint Gaucher mutation N188S is associated with myoclonic epilepsy
    Laurence 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...
  73. ncbi request reprint Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study
    David F Moore
    Section of Neurology, Department of Internal Medicine, University of Manitoba, Canada
    J Magn Reson Imaging 20:674-83. 2004
    ..To test the hypothesis that reactive oxygen species contribute to the cerebral hyperperfusion in Fabry disease...
  74. ncbi request reprint Enzyme replacement therapy in orphan and ultra-orphan diseases: the limitations of standard economic metrics as exemplified by Fabry-Anderson disease
    David 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...
  75. doi request reprint Apoptotic abnormalities in differential gene expression in peripheral blood mononuclear cells from children with Fabry disease
    David 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...
  76. ncbi request reprint Fabry disease: angiokeratoma, biomarker, and the effect of enzyme replacement therapy on kidney function
    Markus Ries
    Arch Dermatol 141:904-5; author reply 905-6. 2005
  77. ncbi request reprint Enzyme replacement in Fabry disease: the essence is in the kidney
    Raphael Schiffmann
    Ann Intern Med 146:142-4. 2007
  78. ncbi request reprint Enhanced calcium release in the acute neuronopathic form of Gaucher disease
    Dori 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...
  79. doi request reprint Genetic and clinical heterogeneity in eIF2B-related disorder
    Jelena 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
    ....
  80. ncbi request reprint Neuropathology provides clues to the pathophysiology of Gaucher disease
    Kondi 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...
  81. ncbi request reprint New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum
    Marjo 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
    ..Leukoencephalopathies of unknown origin constitute a considerable problem in child neurology. The purpose of our ongoing study of the subject was to define new disease entities among them by using primarily MR imaging pattern recognition...
  82. ncbi request reprint Insertion of mutant proteolipid protein results in missorting of myelin proteins
    Catherine 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...
  83. ncbi request reprint Fabry disease and vascular risk factors: future strategies for patient-based studies and the knockout murine model
    David F Moore
    Section of Neurology, University of Manitoba, Winnipeg, Canada
    Acta Paediatr Suppl 95:69-71. 2006
    ....
  84. ncbi request reprint Effect of genetic modifiers on cerebral lesions in Fabry disease
    Gheona 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...
  85. ncbi request reprint Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients
    Liraz 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...
  86. ncbi request reprint The significance of lysosomal inclusions in Fabry disease
    Raphael Schiffmann
    Virchows Arch 449:134. 2006
  87. ncbi request reprint Lamin B1 duplications cause autosomal dominant leukodystrophy
    Quasar 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...
  88. ncbi request reprint 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 PLP1
    Patricia Combes
    INSERM U 384, Faculte de Medecine, Place Henri Dunant, 63000 Clermont Ferrand, France
    Neurogenetics 7:31-7. 2006
    ....
  89. ncbi request reprint Myoclonus in Gaucher disease
    Karen P Frei
    Parkinson s and Movement Disorders Institute, Fountain Valley, California, USA
    Adv Neurol 89:41-8. 2002
  90. ncbi request reprint Diffuse neuroaxonal involvement in mucolipidosis IV as assessed by proton magnetic resonance spectroscopic imaging
    Simona 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...
  91. pmc Proteomics of specific treatment-related alterations in Fabry disease: a strategy to identify biological abnormalities
    David 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...
  92. ncbi request reprint Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
    Gert 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...
  93. ncbi request reprint Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus
    Anne 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...
  94. pmc Genomic abnormalities of the murine model of Fabry disease after disease-related perturbation, a systems biology approach
    David 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...