D C De Vivo

Summary

Affiliation: Columbia University
Country: USA

Publications

  1. ncbi request reprint Congenital Guillain-Barré syndrome associated with maternal inflammatory bowel disease is responsive to intravenous immunoglobulin
    Nigel S Bamford
    Department of Neurology, Columbia University College of Physicians and Surgeons, Neurological Institute, New York, NY 10032, USA
    Eur J Paediatr Neurol 6:115-9. 2002
  2. ncbi request reprint Mitochondrial Disease
    Roser Pons
    Departments of Neurology and Pediatrics, Columbia University College of Physicians and Surgeons, 710 West 168th Street, New York, NY 10032, USA
    Curr Treat Options Neurol 3:271-288. 2001
  3. ncbi request reprint Neonatal blood carnitine concentrations: normative data by electrospray tandem mass spectometry
    Donald H Chace
    Neo Gen Screening, Division of BioAnalytical Chemistry and Mass Spectrometry, Bridgeville, PA 15017, USA
    Pediatr Res 53:823-9. 2003
  4. ncbi request reprint Glucose transporter 1 deficiency syndrome and other glycolytic defects
    Darryl C De Vivo
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA
    J Child Neurol 17:3S15-23; discussion 3S24-5. 2002
  5. ncbi request reprint Does the patient have a mitochondrial encephalomyopathy?
    S DiMauro
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    J Child Neurol 14:S23-35. 1999
  6. pmc Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype
    P Kaufmann
    The Neurological Institute, Columbia University, 710 W 168th Street, New York, NY 10032, USA
    Neurology 77:1965-71. 2011
  7. pmc Selective deficits in verbal working memory associated with a known genetic etiology: the neuropsychological profile of duchenne muscular dystrophy
    V J Hinton
    Gertrude H Sergievsky Center at the College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    J Int Neuropsychol Soc 7:45-54. 2001
  8. ncbi request reprint Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation
    F M Santorelli
    H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia University, New York, New York 10032, USA
    Pediatr Res 39:914-7. 1996
  9. ncbi request reprint Glucose transporter type 1 deficiency syndrome (Glut1DS): methylxanthines potentiate GLUT1 haploinsufficiency in vitro
    Y Y Ho
    Department of Neurology, Columbia University, 710 West 168th Street, New York, NY 10032
    Pediatr Res 50:254-60. 2001
  10. ncbi request reprint Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial
    P Kaufmann
    Department of Neurology, Columbia University, New York 10032, USA
    Neurology 66:324-30. 2006

Detail Information

Publications70

  1. ncbi request reprint Congenital Guillain-Barré syndrome associated with maternal inflammatory bowel disease is responsive to intravenous immunoglobulin
    Nigel S Bamford
    Department of Neurology, Columbia University College of Physicians and Surgeons, Neurological Institute, New York, NY 10032, USA
    Eur J Paediatr Neurol 6:115-9. 2002
    ..The relationship between inflammatory bowel syndrome and inflammatory demyelinating polyneuropathy is discussed...
  2. ncbi request reprint Mitochondrial Disease
    Roser Pons
    Departments of Neurology and Pediatrics, Columbia University College of Physicians and Surgeons, 710 West 168th Street, New York, NY 10032, USA
    Curr Treat Options Neurol 3:271-288. 2001
    ..The expected outcome is a slowing of the disease process and stabilization of the clinical syndrome. More definitive treatments hopefully will follow in the near future...
  3. ncbi request reprint Neonatal blood carnitine concentrations: normative data by electrospray tandem mass spectometry
    Donald H Chace
    Neo Gen Screening, Division of BioAnalytical Chemistry and Mass Spectrometry, Bridgeville, PA 15017, USA
    Pediatr Res 53:823-9. 2003
    ....
  4. ncbi request reprint Glucose transporter 1 deficiency syndrome and other glycolytic defects
    Darryl C De Vivo
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA
    J Child Neurol 17:3S15-23; discussion 3S24-5. 2002
    ..The ketogenic diet is effective treatment for glucose transporter 1 deficiency syndrome and pyruvate dehydrogenase deficiency. It also should benefit patients with neurologic symptoms resulting from a glycolytic enzymopathy...
  5. ncbi request reprint Does the patient have a mitochondrial encephalomyopathy?
    S DiMauro
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    J Child Neurol 14:S23-35. 1999
    ..This knowledge is indispensable for accurate genetic counseling and prenatal diagnosis and is a prerequisite for the development of rational therapies, which are still woefully inadequate...
  6. pmc Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype
    P Kaufmann
    The Neurological Institute, Columbia University, 710 W 168th Street, New York, NY 10032, USA
    Neurology 77:1965-71. 2011
    ..To describe the natural history of clinical and laboratory features associated with the m.3243A>G mitochondrial DNA point mutation. Natural history data are needed to obtain prognostic information and for clinical trial planning...
  7. pmc Selective deficits in verbal working memory associated with a known genetic etiology: the neuropsychological profile of duchenne muscular dystrophy
    V J Hinton
    Gertrude H Sergievsky Center at the College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    J Int Neuropsychol Soc 7:45-54. 2001
    ..The association between the known impact of the genetic mutation on the development of the central nervous system and boys' cognitive profile is discussed...
  8. ncbi request reprint Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation
    F M Santorelli
    H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia University, New York, New York 10032, USA
    Pediatr Res 39:914-7. 1996
    ..These findings suggest that the T8993C mutation is less severe than the more common T8993G mutation...
  9. ncbi request reprint Glucose transporter type 1 deficiency syndrome (Glut1DS): methylxanthines potentiate GLUT1 haploinsufficiency in vitro
    Y Y Ho
    Department of Neurology, Columbia University, 710 West 168th Street, New York, NY 10032
    Pediatr Res 50:254-60. 2001
    ..Our study suggests that Glut1DS patients may have a reduced safety margin for methylxanthines. Consumption of methylxanthine-containing products may aggravate the neurologic symptoms associated with the Glut1DS...
  10. ncbi request reprint Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial
    P Kaufmann
    Department of Neurology, Columbia University, New York 10032, USA
    Neurology 66:324-30. 2006
    ..To evaluate the efficacy of dichloroacetate (DCA) in the treatment of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)...
  11. pmc Verbal and memory skills in males with Duchenne muscular dystrophy
    V J Hinton
    Gertrude H Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    Dev Med Child Neurol 49:123-8. 2007
    ..DMD is a single-gene disorder that is selectively associated with decreased verbal span capacity, but not impaired recall...
  12. ncbi request reprint [Type 1 glucose transporter (Glut1) deficiency: manifestations of a hereditary neurological syndrome]
    J M Pascual
    Colleen Giblin Laboratories, Neurological Institute of New York, College of Physicians and Surgeons, Columbia University, New York, USA
    Rev Neurol 38:860-4. 2004
    ..To define this genetic syndrome...
  13. ncbi request reprint Familial cerebellar ataxia with muscle coenzyme Q10 deficiency
    O Musumeci
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, USA
    Neurology 56:849-55. 2001
    ..CONCLUSIONS: Primary CoQ10 deficiency is a potentially important cause of familial ataxia and should be considered in the differential diagnosis of this condition because CoQ10 administration seems to improve the clinical picture...
  14. ncbi request reprint Defective glucose transport across brain tissue barriers: a newly recognized neurological syndrome
    J Klepper
    Division of Pediatric Neurology, Columbia University, New York, NY 10032, USA
    Neurochem Res 24:587-94. 1999
    ..These studies confirm the molecular basis of the GTPS and the multifunctional role of GLUT1. The need for more effective treatment is compelling...
  15. pmc Six-Minute Walk Test demonstrates motor fatigue in spinal muscular atrophy
    J Montes
    SMA Clinical Research Center, Department of Neurology, Columbia University, 180 Ft Washington Ave, 5th Floor, New York, NY 10032, USA
    Neurology 74:833-8. 2010
    ..The Six-Minute Walk Test (6MWT) is an objective, easily administered, and standardized evaluation of functional exercise capacity that has been proven reliable in other neurologic disorders and in children...
  16. ncbi request reprint GLUT1 deficiency and other glucose transporter diseases
    Juan M Pascual
    Colleen Giblin Laboratories, Neurological Institute of New York, College of Physicians and Surgeons, Columbia University, New York City, NY, USA
    Eur J Endocrinol 150:627-33. 2004
    ..The study of these diseases illustrates fundamental aspects of energetic metabolism, while providing the basis for their diagnosis by simple metabolic screening and for their treatment by dietary modification...
  17. ncbi request reprint Glut-1 deficiency syndrome: clinical, genetic, and therapeutic aspects
    Dong Wang
    Colleen Giblin Laboratories for Pediatric Neurology Research, Department of Neurology, Columbia University, 710 West 168th Street, New York, NY 10032, USA
    Ann Neurol 57:111-8. 2005
    ..Fourteen were novel mutations. There were no obvious correlations between phenotype, genotype, or biochemical measures. The ketogenic diet produced good seizure control...
  18. doi request reprint Fatigue leads to gait changes in spinal muscular atrophy
    Jacqueline Montes
    Department of Neurology, Columbia University Medical Center, 180 Ft Washington Avenue, Fifth Floor, New York, New York 10032, USA
    Muscle Nerve 43:485-8. 2011
    ..The 6-minute walk test (6MWT) is a reliable measure of fatigue in SMA patients. To further evaluate fatigue, we used quantitative gait analysis during the 6MWT...
  19. ncbi request reprint A mouse model for Glut-1 haploinsufficiency
    Dong Wang
    Colleen Giblin Laboratories for Pediatric Neurology Research, Department of Neurology, Columbia University, New York, NY 10032, USA
    Hum Mol Genet 15:1169-79. 2006
    ..This GLUT-1+/- mouse model creates an opportunity to investigate Glut-1 function, to examine the pathophysiology of Glut-1 DS in vivo and to evaluate new treatment strategies...
  20. ncbi request reprint An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients
    Jessica M O'Hagen
    Columbia University, New York, NY, USA
    Neuromuscul Disord 17:693-7. 2007
    ..To develop and evaluate an expanded version of the Hammersmith Functional Motor Scale allowing for evaluation of ambulatory SMA patients...
  21. doi request reprint Muscle volume estimation by magnetic resonance imaging in spinal muscular atrophy
    Douglas M Sproule
    Division of Pediatric Neurosciences, Department of Neurology, SMA Clinical Research Center, Columbia University Medical Center, New York, New York 10032 3791, USA
    J Child Neurol 26:309-17. 2011
    ..14) than type 3. Reproducibility, tolerability, and strong correlation with clinical measures make magnetic resonance imaging a candidate biomarker for clinical research...
  22. doi request reprint Protean phenotypic features of the A3243G mitochondrial DNA mutation
    Petra Kaufmann
    Department of Neurology, The Neurological Institute, Columbia University Medical Center, New York, NY 10032, USA
    Arch Neurol 66:85-91. 2009
    ....
  23. ncbi request reprint Mitochondrial disorders
    Salvatore DiMauro
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA
    J Child Neurol 17:3S35-45; discussion 3S46-7. 2002
    ..These defects generally cause autosomal recessive Leigh disease. In this review, the frequency and types of epilepsy (particularly early-onset seizures) are compared according to a genetic classification of the mitochondrial disorders...
  24. ncbi request reprint Imaging the metabolic footprint of Glut1 deficiency on the brain
    Juan M Pascual
    Colleen Giblin Laboratories, Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA
    Ann Neurol 52:458-64. 2002
    ..The potential benefit of prompt diagnosis, aided by 18F-fluorodeoxyglucose positron emission tomography, and early initiation of available therapies is underscored by our results...
  25. doi request reprint Uncovering microdeletions in patients with severe Glut-1 deficiency syndrome using SNP oligonucleotide microarray analysis
    Brynn Levy
    Department of Pathology and Cell Biology, College of Physicians and Surgeons of Columbia University, New York, NY 10032, USA
    Mol Genet Metab 100:129-35. 2010
    ..All patients had severe epilepsy, significant cognitive and motor delay, ataxia, and microcephaly. MRI changes, when present, were of greater severity than are typically associated with missense mutations in SLC2A1...
  26. pmc Adiposity is increased among high-functioning, non-ambulatory patients with spinal muscular atrophy
    Douglas M Sproule
    Division of Pediatric Neurosciences, Department of Neurology, SMA Clinical Research Center, Columbia University Medical Center, New York, NY 10032 3791, USA
    Neuromuscul Disord 20:448-52. 2010
    ....
  27. doi request reprint Bioelectrical impedance analysis can be a useful screen for excess adiposity in spinal muscular atrophy
    Douglas M Sproule
    Division of Pediatric Neurosciences, Department of Neurology, SMA Clinical Research Center, Columbia University Medical Center, New York, New York 10032 3791, USA
    J Child Neurol 25:1348-54. 2010
    ..Although insufficiently accurate for use as a research tool, bioelectrical impedance can have application as a well-tolerated, noninvasive, easily used screening tool for excess adiposity in patients with spinal muscular atrophy...
  28. doi request reprint Association of autistic spectrum disorders with dystrophinopathies
    Veronica J Hinton
    Gertrude H Sergievsky Center, Columbia University, New York, NY, USA
    Pediatr Neurol 41:339-46. 2009
    ..Increased attention to behavioral concerns associated with dystrophinopathies is necessary to ensure the well-being of the whole family...
  29. doi request reprint Clinical outcome measures in spinal muscular atrophy
    Jacqueline Montes
    Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
    J Child Neurol 24:968-78. 2009
    ..Following is an evidence-based review of available clinical outcome measures in spinal muscular atrophy...
  30. pmc Increased fat mass and high incidence of overweight despite low body mass index in patients with spinal muscular atrophy
    Douglas M Sproule
    Division of Pediatric Neurosciences, Department of Neurology, SMA Clinical Research Center, Columbia University Medical Center, Harkness Pavilion, HP 514, 180 Fort Washington Avenue, New York, NY 10032 3791, USA
    Neuromuscul Disord 19:391-6. 2009
    ..Children with SMA have reduced lean and increased fat mass compared to healthy children. Obesity is a potentially important modifiable source of morbidity in SMA...
  31. ncbi request reprint Pyruvate carboxylase deficiency: a benign variant with normal development
    R N Van Coster
    Division of Pediatric Neurology, Columbia Presbyterian Medical Center, New York, New York 10032
    Pediatr Res 30:1-4. 1991
    ..These crises have been managed by rehydration and bicarbonate therapy. We are unable to provide a satisfactory explanation for the uniquely benign clinical course that has been experienced by this patient...
  32. doi request reprint Reliability of telephone administration of the PedsQL Generic Quality of Life Inventory and Neuromuscular Module in spinal muscular atrophy (SMA)
    Sally Dunaway
    SMA Clinical Research Center, Columbia University Medical Center, New York, NY, USA
    Neuromuscul Disord 20:162-5. 2010
    ..Notably, telephone administration is reliable in children as young as 8 years...
  33. ncbi request reprint Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations
    Stacey K H Tay
    Department of Neurology, Columbia University, New York, NY, USA
    J Child Neurol 20:670-4. 2005
    ..Likewise, mitochondrial proliferation in muscle (with ragged red fibers) is most unusual in Leigh disease but might be part of an emerging phenotype...
  34. ncbi request reprint Seizure characterization and electroencephalographic features in Glut-1 deficiency syndrome
    Linda D Leary
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York, U S A
    Epilepsia 44:701-7. 2003
    ..To characterize seizure types and electroencephalographic features of glucose transporter type 1 deficiency syndrome (Glut-1 DS)...
  35. ncbi request reprint Nerve conduction abnormalities in patients with MELAS and the A3243G mutation
    Petra Kaufmann
    Department of Neurology, Columbia University, 710 W 168th Street, New York, NY 10032, USA
    Arch Neurol 63:746-8. 2006
    ..Neuropathy has been associated with several mitochondrial diseases, including MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes)...
  36. ncbi request reprint Mitochondrial DNA abnormalities and autistic spectrum disorders
    Roser Pons
    Departments of Neurology, Pediatrics, and Psychiatry, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA
    J Pediatr 144:81-5. 2004
    ..Study design Five patients with autistic spectrum disorders and family histories of mitochondrial DNA diseases were studied. We performed mtDNA analysis in all patients and magnetic resonance spectroscopy in three...
  37. ncbi request reprint Mutation screening in patients with isolated cytochrome c oxidase deficiency
    Sabrina Sacconi
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA
    Pediatr Res 53:224-30. 2003
    ..These data show that heterogeneous clinical phenotypes are associated with COX deficiency, that mutations in mtDNA COX genes are rare, and that mutations in additional genes remain to be identified...
  38. pmc Poor facial affect recognition among boys with duchenne muscular dystrophy
    V J Hinton
    Gertrude H Sergievsky Center and the Department of Neurology, Columbia University, 630 West 168th Street, P and S Box 16, New York, NY 10032, USA
    J Autism Dev Disord 37:1925-33. 2007
    ..Thus, mildly impaired facial affect recognition may be part of the phenotype associated with Duchenne or Becker MD...
  39. ncbi request reprint Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene
    G Manfredi
    Department of Neurology, H Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Disorders, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA
    J Biol Chem 274:9386-91. 1999
    ....
  40. ncbi request reprint Cerebellar ataxia and coenzyme Q10 deficiency
    C Lamperti
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, USA
    Neurology 60:1206-8. 2003
    ..Associated symptoms included seizures, developmental delay, mental retardation, and pyramidal signs. These findings confirm the existence of an ataxic presentation of CoQ10 deficiency, which may be responsive to CoQ10 supplementation...
  41. pmc Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS
    Mahsa Mehrazin
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA
    Am J Med Genet A 149:584-7. 2009
    ..This study suggests that A3243G mutant load in DNA isolated from blood is neither useful for prognosis nor for functional assessment...
  42. pmc Murine Glut-1 transporter haploinsufficiency: postnatal deceleration of brain weight and reactive astrocytosis
    Paivi M Ullner
    Department of Neurology, Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University, New York, NY, USA
    Neurobiol Dis 36:60-9. 2009
    ..These subtle immunochemical changes reflect chronic nutrient deficiency during brain development and represent the experimental correlates to the human neurological phenotype associated with Glut-1 DS...
  43. ncbi request reprint Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis
    Sara Shanske
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA
    Am J Med Genet A 130:134-7. 2004
    ..We conclude that urinary sediment and cheek mucosa are tissues of choice for the diagnosis of mtDNA mutations, as they are easy to obtain and the mutation load is almost always greater than in blood...
  44. doi request reprint Functional studies of the T295M mutation causing Glut1 deficiency: glucose efflux preferentially affected by T295M
    Dong Wang
    Department of Neurology, Columbia University, New York, New York 10032, USA
    Pediatr Res 64:538-43. 2008
    ..These findings explain the seemingly paradoxical findings of Glut1 DS with hypoglycorrhachia and "normal" erythrocyte glucose uptake...
  45. ncbi request reprint Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet
    Jennifer R L Friedman
    Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, and Department of Neurology, Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University, New York, NY, USA
    Mov Disord 21:241-5. 2006
    ..This case broadens the phenotype of GLUT1 deficiency and illustrates the importance of cerebrospinal fluid (CSF) evaluation in detecting potentially treatable conditions in children with undiagnosed movement disorders...
  46. ncbi request reprint Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA
    Charalampos L Karadimas
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, USA
    Neuromuscul Disord 12:865-8. 2002
    ..This second patient with G12315A and progressive external ophthalmoplegia confirms the pathogenicity of the mutation and helps to define the correlation between genotype and phenotype...
  47. doi request reprint Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation
    Timothy Parsons
    Department of Neurology, Columbia University, 710 W 168th St, New York, NY 10032, USA
    Arch Neurol 67:976-9. 2010
    ..The m.3243A>G mutation can cause multisystem medical problems and can affect the autonomic nervous system...
  48. doi request reprint Pulmonary artery hypertension in a child with MELAS due to a point mutation of the mitochondrial tRNA((Leu)) gene (m.3243A>G)
    D M Sproule
    Division of Pediatric Neurology, Departments of Neurology and Pediatrics, Columbia University Medical Center, Harkness Pavilion, HP 544, 180 Fort Washington Avenue, New York, NY, 10032 3791, USA
    J Inherit Metab Dis 31:497-503. 2008
    ....
  49. ncbi request reprint Cerebral lactic acidosis correlates with neurological impairment in MELAS
    P Kaufmann
    Department of Neurology, Columbia University, New York, NY 10032, USA
    Neurology 62:1297-302. 2004
    ..To evaluate the role of chronic cerebral lactic acidosis in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)...
  50. ncbi request reprint The changing natural history of spinal muscular atrophy type 1
    M Oskoui
    Department of Neurology, Columbia University, New York, NY, USA
    Neurology 69:1931-6. 2007
    ..Noninvasive ventilation has become increasingly available to spinal muscular atrophy (SMA) patients since the early 1990 s. This is expected to have improved survival for SMA type 1 patients...
  51. ncbi request reprint Mutational analysis of GLUT1 (SLC2A1) in Glut-1 deficiency syndrome
    D Wang
    Colleen Giblin Laboratories for Pediatric Neurology Research, Department of Neurology, Columbia University, New York, New York, USA
    Hum Mutat 16:224-31. 2000
    ..A spontaneous R126L missense mutation also was present in the paternally derived allele of the patient. The apparent pathogenicity of these mutations is discussed in relation to the functional domains of Glut-1...
  52. ncbi request reprint Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis
    R Pons
    Department of Neurology, College of Physicians and Surgeons of Columbia University, New York, NY, USA
    Neurology 62:1058-65. 2004
    ..Treatment with dopamine agonists and MAO inhibitors is beneficial, yet long-term prognosis is unclear...
  53. doi request reprint Design and evaluation of a hybrid passive and active gravity neutral orthosis (GNO)
    Benjamin Koo
    Department of Neurology, SMA Clinical Research Center, Columbia University Medical Center, New York, NY 10032 USA
    Conf Proc IEEE Eng Med Biol Soc 2009:1573-6. 2009
    ..The goal of this project is the development and evaluation of a mechanical arm orthosis to both encourage and assist functional arm movement while providing the user a sense of independence and control over one's own body...
  54. pmc Navajo neurohepatopathy is caused by a mutation in the MPV17 gene
    Charalampos L Karadimas
    Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
    Am J Hum Genet 79:544-8. 2006
    ..Identification of a single missense mutation in patients with NNH confirms that the disease is probably due to a founder effect and extends the phenotypic spectrum associated with MPV17 mutations...
  55. doi request reprint Acute hyperglycemia produces transient improvement in glucose transporter type 1 deficiency
    Cigdem I Akman
    Department of Neurology, Baylor College of Medicine, Houston, TX, USA
    Ann Neurol 67:31-40. 2010
    ....
  56. ncbi request reprint Wolff-Parkinson-White syndrome in Patients With MELAS
    Douglas M Sproule
    Division of Pediatric Neurology, Department of Neurology, Columbia University, New York, NY, USA
    Arch Neurol 64:1625-7. 2007
    ..Tissues with high energy demands, such as the heart, are susceptible to the effects of mitochondrial DNA point mutations...
  57. ncbi request reprint Hypocitrullinemia in patients with MELAS: an insight into the "MELAS paradox"
    Ali Naini
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    J Neurol Sci 229:187-93. 2005
    ..We discuss the depressed citrulline levels in MELAS patients, who have an unusual and paradoxical pattern of vascular respiratory chain expression, in the context of NO homeostasis...
  58. ncbi request reprint Functional studies of threonine 310 mutations in Glut1: T310I is pathogenic, causing Glut1 deficiency
    Dong Wang
    Department of Neurology, Columbia University, New York, New York 10032, USA
    J Biol Chem 278:49015-21. 2003
    ..73), and a minimal correlation between uptake, Pf, and molecular weight. These findings are consistent with a central role for hydropathy rather than size at position 310 of this mutation...
  59. ncbi request reprint Changes in glucose transport and water permeability resulting from the T310I pathogenic mutation in Glut1 are consistent with two transport channels per monomer
    Pavel Iserovich
    Department of Ophthalmology, College of Physicians and Surgeons, Columbia University, 630 W 168th Street, New York, NY 10032, USA
    J Biol Chem 277:30991-7. 2002
    ..These experimental observations and an analysis of our three-dimensional model strongly suggest the presence of two channels per Glut1 monomer, one of which can be blocked by the mutation T310I...
  60. ncbi request reprint Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene
    Maryam Oskoui
    Department of Neurology, Columbia University Medical Center, 630 West 168th Street, New York, NY 10032, USA
    Arch Neurol 63:1122-6. 2006
    ....
  61. ncbi request reprint Glucose transporter protein syndromes
    Darryl C De Vivo
    Department of Neurology, Colleen Giblin Research Laboratories for Pediatric Neurology, Columbia University, New York 10032, USA
    Int Rev Neurobiol 51:259-88. 2002
  62. pmc Structural signatures and membrane helix 4 in GLUT1: inferences from human blood-brain glucose transport mutants
    Juan M Pascual
    Department of Neurology, The University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA
    J Biol Chem 283:16732-42. 2008
    ....
  63. ncbi request reprint EEG features of glut-1 deficiency syndrome
    Arpad von Moers
    Department of Pediatrics and Neuropediatrics, Charite Campus Virchow, Humboldt University, Berlin, Germany
    Epilepsia 43:941-5. 2002
    ..Glut-1 deficiency syndrome (Glut-1 DS) is caused by the deficiency of the major glucose transporter in cerebral microvessels...
  64. ncbi request reprint Classification of infantile seizures: implications for identification and treatment of inborn errors of metabolism
    Douglas R Nordli
    Department of Pediatrics, Lorna S and James P Langdon Chair of Pediatric Epilepsy, Children s Memorial Hospital, Northwestern University, Chicago, Illinois 60614 3394, USA
    J Child Neurol 17:3S3-7; discussion 3S8. 2002
    ..Earlier recognition of metabolic disorders may be accomplished by careful study of clinical and electrographic characteristics. There are important treatment considerations associated with these disorders...
  65. ncbi request reprint Three Japanese patients with glucose transporter type 1 deficiency syndrome
    Tatsuya Fujii
    Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Japan
    Brain Dev 29:92-7. 2007
    ..FDG-PET scan, performed before and after a ketogenic diet in the R333W patient, did not change despite a clinical improvement. This clinical condition is treatable and early diagnosis is important...
  66. ncbi request reprint Brain glucose supply and the syndrome of infantile neuroglycopenia
    Juan M Pascual
    Colleen Giblin Research Laboratories, Neurological Institute of New York, USA
    Arch Neurol 64:507-13. 2007
    ..To describe neuroglycopenia as a specific syndrome caused by insufficient glucose availability during brain development...
  67. pmc A functionally dominant mitochondrial DNA mutation
    Sabrina Sacconi
    Féderation des maladies neuromusculaires, CHU de Nice and INSERM U638, Nice, France
    Hum Mol Genet 17:1814-20. 2008
    ..Moreover, similar mutations arising stochastically and accumulating in a minority of mtDNA molecules during the aging process may severely impair RC function in cells...
  68. ncbi request reprint Inherited metabolic disorders and seizures in infancy
    Darryl C De Vivo
    J Child Neurol 17:3S1-2. 2002
  69. ncbi request reprint Reversible infantile hypoglycorrhachia: possible transient disturbance in glucose transport?
    Jörg Klepper
    Department of Pediatric Neurology, University of Essen, Essen, Germany
    Pediatr Neurol 29:321-5. 2003
    ..Though no treatment is required, clinical follow-up and repeated lumbar punctures are necessary to distinguish this benign condition from the original GLUT1 deficiency syndrome...
  70. pmc RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders
    F Brancati
    Istituto di Ricovero e Cura a Carattere Scientifico, CSS Mendel Institute, Rome, Italy
    Clin Genet 74:164-70. 2008
    ..Conversely, no pathogenic changes were found in patients with other JSRD phenotypes, suggesting that RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall represent a rare cause of JSRD (<2%)...