metabolic brain diseases

Summary

Summary: Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function.

Top Publications

  1. ncbi [Chorea in hemodialysis: Is chorea just a neurological syndrome or is it related to uremia or dialysis?]
    G F M Strippoli
    Dipartimento dell Emergenza e dei Trapianti d Organo, Sezione di Nefrologia Universita degli Studi di Bari, Italy
    G Ital Nefrol 19:575-84. 2002
  2. ncbi [Hashimoto's encephalopathy]
    A Arés Luque
    Servicio de Neurologia, Hospital de Leon, Espana
    Neurologia 17:628-32. 2002
  3. ncbi The pathophysiology and treatment of hyponatraemic encephalopathy: an update
    Michael L Moritz
    Division of Nephrology, Department of Pediatrics, Children s Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA
    Nephrol Dial Transplant 18:2486-91. 2003
  4. ncbi Hyperglycemic hemianopia: a reversible complication of non-ketotic hyperglycemia
    Patrick J M Lavin
    Department of Neurology, Vanderbilt University Medical Center, Nashville, TN 37212, USA
    Neurology 65:616-9. 2005
  5. ncbi Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency
    M C Y de Wit
    Department of Child Neurology, Erasmus Medical Center, Rotterdam, The Netherlands
    Mol Genet Metab 87:102-6. 2006
  6. ncbi Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF
    N I Wolf
    Department of Pediatric Neurology, University Children s Hospital Heidelberg, Germany
    Neurology 62:1503-8. 2004
  7. ncbi Acute glomerulonephritis presenting with PRES: a report of 4 cases
    E C Wirrell
    Division of Pediatric Neurology, Department of Pediatrics and Clinical Neurosciences, University of Calgary, Calgary, AB, Canada
    Can J Neurol Sci 34:316-21. 2007
  8. ncbi Valproate-induced encephalopathy: assessment with MR imaging and 1H MR spectroscopy
    Sargon Ziyeh
    Section of Neuroradiology, Department of Neurosurgery, and Section of Medical Physics, Department of Diagnostic Radiology, University Hospital, Freiburg, Germany
    Epilepsia 43:1101-5. 2002
  9. ncbi Diffusion-weighted magnetic resonance imaging of porphyric encephalopathy: a case report
    Pao Sheng Yen
    Department of Diagnostic Radiology, Chang Gung Memorial Hospital, Taipei, Taiwan, ROC
    Eur Neurol 48:119-21. 2002
  10. ncbi Extensive cortical magnetic resonance signal change in proximal urea cycle disorder
    P S Bindu
    Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India
    J Child Neurol 22:238-9. 2007

Detail Information

Publications196 found, 100 shown here

  1. ncbi [Chorea in hemodialysis: Is chorea just a neurological syndrome or is it related to uremia or dialysis?]
    G F M Strippoli
    Dipartimento dell Emergenza e dei Trapianti d Organo, Sezione di Nefrologia Universita degli Studi di Bari, Italy
    G Ital Nefrol 19:575-84. 2002
    ....
  2. ncbi [Hashimoto's encephalopathy]
    A Arés Luque
    Servicio de Neurologia, Hospital de Leon, Espana
    Neurologia 17:628-32. 2002
    ..Steroids are the treatment of choice, although favourable evolution have been reported spontaneously or after thyroxine treatment...
  3. ncbi The pathophysiology and treatment of hyponatraemic encephalopathy: an update
    Michael L Moritz
    Division of Nephrology, Department of Pediatrics, Children s Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA
    Nephrol Dial Transplant 18:2486-91. 2003
  4. ncbi Hyperglycemic hemianopia: a reversible complication of non-ketotic hyperglycemia
    Patrick J M Lavin
    Department of Neurology, Vanderbilt University Medical Center, Nashville, TN 37212, USA
    Neurology 65:616-9. 2005
    ..In one patient the progressive visual field defect and unusual MRI findings initially caused concern for a tumor...
  5. ncbi Brain abnormalities in a case of malonyl-CoA decarboxylase deficiency
    M C Y de Wit
    Department of Child Neurology, Erasmus Medical Center, Rotterdam, The Netherlands
    Mol Genet Metab 87:102-6. 2006
    ....
  6. ncbi Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF
    N I Wolf
    Department of Pediatric Neurology, University Children s Hospital Heidelberg, Germany
    Neurology 62:1503-8. 2004
    ..The clinical features and MR images of both patients resembled the connatal form of Pelizaeus-Merzbacher disease (PMD), which is an X-linked recessive disorder caused by duplications or mutations of the proteolipid protein gene (PLP)...
  7. ncbi Acute glomerulonephritis presenting with PRES: a report of 4 cases
    E C Wirrell
    Division of Pediatric Neurology, Department of Pediatrics and Clinical Neurosciences, University of Calgary, Calgary, AB, Canada
    Can J Neurol Sci 34:316-21. 2007
    ..Posterior reversible encephalopathy syndrome (PRES) occurs most commonly in the setting of known hypertension or use of immunosuppressive agents...
  8. ncbi Valproate-induced encephalopathy: assessment with MR imaging and 1H MR spectroscopy
    Sargon Ziyeh
    Section of Neuroradiology, Department of Neurosurgery, and Section of Medical Physics, Department of Diagnostic Radiology, University Hospital, Freiburg, Germany
    Epilepsia 43:1101-5. 2002
    ..N-Acetylaspartate levels were moderately decreased. Quantitative MRS gave detailed insight into alterations of brain metabolism in VPA-induced encephalopathy...
  9. ncbi Diffusion-weighted magnetic resonance imaging of porphyric encephalopathy: a case report
    Pao Sheng Yen
    Department of Diagnostic Radiology, Chang Gung Memorial Hospital, Taipei, Taiwan, ROC
    Eur Neurol 48:119-21. 2002
  10. ncbi Extensive cortical magnetic resonance signal change in proximal urea cycle disorder
    P S Bindu
    Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India
    J Child Neurol 22:238-9. 2007
    ..It is believed that intracerebral accumulation of glutamine mainly in astrocytes is the major cause of the encephalopathy. This results in astrocyte swelling, brain edema, intracranial hypertension, and cerebral hypoperfusion...
  11. ncbi Relationship of white matter hyperintensities to cerebrospinal fluid glucose polyol pathway metabolites-a pilot study in treatment-resistant affective disorder patients
    William T Regenold
    Division of Geriatric Psychiatry, Department of Psychiatry, University of Maryland School of Medicine, and Research Service, VA Maryland Healthcare System, Baltimore, MD 21201, USA
    J Affect Disord 85:341-50. 2005
    ....
  12. ncbi Serum and CSF levels of cytokines in acute encephalopathy following prolonged febrile seizures
    Takashi Ichiyama
    Department of Pediatrics, Yamaguchi University Graduate School of Medicine, 1 1 1 Minamikogushi, Ube, Yamaguchi 755 8505, Japan
    Brain Dev 30:47-52. 2008
    ..Our results suggest that serum IL-6, IL-10, TNF-alpha, and CSF IL-6 are part of the regulatory system of cytokines in AEPFS...
  13. ncbi Neurodegeneration with brain iron accumulation: clinical, radiographic and genetic heterogeneity and corresponding therapeutic options
    Frederik Clement
    Department of Neurology, Hopital Roger Salengro, Lille, France
    Acta Neurol Belg 107:26-31. 2007
    ..Neurodegeneration with brain iron accumulation (NBIA), formerly known as Hallervorden-Spatz syndrome, is a heterogeneous group of disorders with different treatment options...
  14. ncbi G protein diseases: newly recognized causes of metabolic encephalopathy
    Jaak C Jaeken
    Center for Metabolic Disease, University Hospital Gasthuisberg, University of Leuven, Leuven, Belgium
    Eur J Paediatr Neurol 7:211-5. 2003
  15. ncbi Severe encephalopathy with epilepsy in an infant caused by subclinical maternal pernicious anaemia: case report and review of the literature
    G Christoph Korenke
    Department of Paediatrics and Neuropaediatrics, University of Gottingen, Germany
    Eur J Pediatr 163:196-201. 2004
    ..Long-term MRI follow-up, performed at the age of 7 years, showed moderate enlargement of the ventricles with reduction of myelin and hypoplasia of the corpus callosum...
  16. doi A successfully treated adult patient with L-2-hydroxyglutaric aciduria
    M Samuraki
    Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, 13 1, Takara machi, Kanazawa, 920 8640, Japan
    Neurology 70:1051-2. 2008
  17. ncbi Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders
    Jun ichi Takanashi
    Neuroradiology Section, Department of Radiology, University of California San Francisco, San Francisco, CA, USA
    AJNR Am J Neuroradiol 24:1184-7. 2003
    ..We hypothesize that these lesions presumably reflect the distribution of brain injury due to hypoperfusion secondary to hyperammonemia and hyperglutaminemia in the neonatal period...
  18. ncbi Practice parameter: diagnostic assessment of the child with cerebral palsy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
    S Ashwal
    Division of Child Neurology Dr Ashwal, Department of Pediatrics, Loma Linda University School of Medicine, CA
    Neurology 62:851-63. 2004
    ..For this parameter the authors reviewed available evidence on the assessment of a child suspected of having cerebral palsy (CP), a nonprogressive disorder of posture or movement due to a lesion of the developing brain...
  19. ncbi Reversible parkinsonism following heroin pyrolysate inhalation is associated with tetrahydrobiopterin deficiency
    Simon Heales
    Neurometabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom
    Mov Disord 19:1248-51. 2004
    ..A reversible deficiency of tetrahydrobiopterin, causing altered dopamine metabolism, is demonstrated as the metabolic basis of this aspect of the encephalopathy...
  20. ncbi Brain damage in glycogen storage disease type I
    Daniela Melis
    Department of Pediatrics, Universita Federico II, Naples, Italy
    J Pediatr 144:637-42. 2004
    ..To investigate brain morphology and function in patients with glycogen storage disease type I (GSDI)...
  21. ncbi FDG-PET findings in the Wernicke-Korsakoff syndrome
    Laurence J Reed
    University Dept of Psychiatry and Psychology, St Thomas s Hospital, Kings College, London, UK
    Cortex 39:1027-45. 2003
    ..There was also evidence of a variable degree of more general frontotemporal neocortical hypometabolism on some, but not all, analyses...
  22. ncbi [Brain magnetic resonance spectroscopy]
    D Galanaud
    Service de Neuroradiologie, hôpital La Pitié Salpêtrière, 47, Boulevard de l Hopital, 75651 Paris Cedex 13
    J Radiol 88:483-96. 2007
    ....
  23. ncbi 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...
  24. ncbi [MRI and metabolic brain pathology]
    C Adamsbaum
    Service de Radiopediatrie, Hôpital SaintVincent de Paul, Paris, France
    JBR-BTR 88:249-50. 2005
  25. ncbi Neurological manifestations of dengue virus infection
    U K Misra
    Department of Neurology, Sanjay Gandhi PGIMS, Lucknow 226014, India
    J Neurol Sci 244:117-22. 2006
    ..Paucity of studies on neurological manifestations in dengue virus infection prompted this study. We aim to correlate clinical, radiological and neurophysiological changes in dengue patients with neurological manifestations...
  26. ncbi Acute encephalopathy with refractory status epilepticus: bilateral mesial temporal and claustral lesions, associated with a peripheral marker of oxidative DNA damage
    Takashi Shiihara
    Department of Pediatrics, Yamagata University School of Medicine, 2 2 2 Iida nishi, Yamagata 990 9585, Japan
    J Neurol Sci 250:159-61. 2006
    ..Serial measurements of oxidative stress markers in acute encephalitis, encephalopathy, or status epilepticus could clarify the relationships between acute brain damage and free radicals...
  27. ncbi MR spectroscopy in pediatric neuroradiology
    J V Hunter
    Department of Radiology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania19104, USA
    Magn Reson Imaging Clin N Am 9:165-89, ix. 2001
    ..With the introduction of gene therapy and other new interventions, a noninvasive tool such as MR spectroscopy may prove to be invaluable...
  28. ncbi In vivo 1H magnetic resonance spectroscopic measurement of brain glycine levels in nonketotic hyperglycinemia
    L Gabis
    Department of Neurology, State University of New York at Stony Brook 11794-8640, USA
    J Neuroimaging 11:209-11. 2001
    ....
  29. ncbi Different clinical manifestations of hyperammonemic encephalopathy
    Y B Gomceli
    Department of Neurology, Ankara Training and Research Hospital, Ministry of Health, Ankara, Turkey
    Epilepsy Behav 10:583-7. 2007
    ..Clinicians should be aware that these clinical symptoms may be related to valproate-induced hyperammonemic encephalopathy. The symptoms have been observed to resolve dramatically after withdrawal of the drug...
  30. ncbi Painful legs and moving toes syndrome associated with Hashimoto's disease
    J Guimaraes
    Department of Neurology, Hospital Egas Moniz, Lisboa, Portugal
    Eur J Neurol 14:343-5. 2007
    ..The neurological and electrophysiological findings suggest that, in this case, PLMT syndrome is a variety of dystonic movement and is associated with Hashimoto's disease...
  31. ncbi MRI, clinical, and biochemical features of partial pyruvate carboxylase deficiency
    J J Higgins
    Clinical Neurogenetics Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892
    J Child Neurol 9:436-9. 1994
    ..At age 6 years, he is dysarthric with a spastic quadriparesis despite improvements in development and myelination. This is the first demonstration of magnetic resonance imaging changes in this disease...
  32. ncbi [Confusional state and disturbances of consciousness]
    Olivier Martinaud
    Département de neurologie et CMRR, CHU de Rouen, 76000 Rouen
    Rev Prat 56:1597-602. 2006
  33. ncbi Effects of benzodiazepines on triphasic waves: implications for nonconvulsive status epilepticus
    N B Fountain
    Department of Neurology, University of Virginia, Charlottesville 22908, USA
    J Clin Neurophysiol 18:345-52. 2001
    ..This also implies that gamma-aminobutyric acid neurotransmission is important in the expression of TW...
  34. ncbi Not a new leukodystrophy but congenital cytomegalovirus infection
    Burak Tatli
    Division of Child Neurology, Department of Pediatrics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
    J Child Neurol 20:525-7. 2005
    ..Etiologic investigations revealed a positive polymerase chain reaction for cytomegalovirus DNA using her stored Guthrie card, indicating a congenital cytomegalovirus infection...
  35. ncbi Central nervous system manifestations of mitochondrial disorders
    J Finsterer
    Krankenanstalt Rudolfstiftung, Vienna, Austria
    Acta Neurol Scand 114:217-38. 2006
    ..Valproate, carbamazepine, corticosteroids, acetyl salicylic acid, local and volatile anesthetics should be applied with caution. Avoiding certain drugs is often more beneficial than application of established, apparently indicated drugs...
  36. ncbi Alexia without agraphia in a child with acute disseminated encephalomyelitis
    Yitzchak Frank
    Neurology 68:965-6; author reply 966. 2007
  37. ncbi Hashimoto's encephalopathy mimicking migraine with aura
    Adolfo Jimenez Huete
    Department of Neurology, Hospital Ruber Internacional, Madrid, Spain
    Headache 47:130-1. 2007
    ..Repeated thyroid hormone levels were within normal values, but high titers of antithyroid antibodies in serum, and diffuse EEG slowing and CSF abnormalities during one episode led to the diagnosis...
  38. pmc Voltage-gated potassium channel autoimmunity mimicking creutzfeldt-jakob disease
    Michael D Geschwind
    Neuroimmunology Laboratory, Hilton 3 78F, Mayo Clinic, 200 First St SW, Rochester, MN 55905, USA
    Arch Neurol 65:1341-6. 2008
    ..Rapidly progressive dementia has a variety of causes, including Creutzfeldt-Jakob disease (CJD) and neuronal voltage-gated potassium channel (VGKC) autoantibody-associated encephalopathy...
  39. ncbi Triphasic waves versus nonconvulsive status epilepticus: EEG distinction
    Jean Martin Boulanger
    Department of Neurology, Centre Hospitalier Universitaire de Sherbrooke, Quebec, Canada
    Can J Neurol Sci 33:175-80. 2006
    ..Triphasic waves (TWs) and generalized nonconvulsive status epilepticus (GNCSE) share morphological features that may create diagnostic ambiguity...
  40. ncbi Re: Triphasic waves versus nonconvulsive status epilepticus: EEG distinction. Can J Neurol Sci 2006;33:175-80
    Jose L Fernandez-Torre
    Can J Neurol Sci 33:433-4. 2006
  41. ncbi White matter disease in cerebral organic acid disorders: clinical implications and suggested pathomechanisms
    S Kolker
    Department of General Pediatrics, Division of Metabolic and Endocrine Diseases, University Children s Hospital, Heidelberg, Germany
    Neuropediatrics 33:225-31. 2002
    ....
  42. ncbi 3-methylglutaconic aciduria type 4 manifesting as Leigh syndrome in 2 siblings
    Nuria Muñoz Jareño
    Servicio de Neuropediatria, Hospital Clinico San Carlos, Madrid, Spain
    J Child Neurol 22:218-21. 2007
    ..Descriptions of 3-methylglutaric acid type 4 associated with Leigh syndrome are rare...
  43. ncbi Oligodendrocytes within astrocytes ("emperipolesis") in the cerebral white matter in hepatic and hypoglycemic encephalopathy
    Makoto Nishie
    Department of Neuropathology, Institute of Brain Science, Hirosaki University School of Medicine, Hirosaki, Japan
    Neuropathology 26:62-5. 2006
    ..The present findings suggest that emperipolesis can occur even in chronic metabolic disorders that extensively involve the cerebral white matter...
  44. ncbi Mechanisms of brain edema in acute liver failure and impact of novel therapeutic interventions
    Javier Vaquero
    Neuroscience Research Unit, Hôpital Saint Luc CHUM, Universite de Montreal, Montreal, H2X3J4, QC, Canada
    Neurol Res 29:683-90. 2007
    ....
  45. ncbi Hyperammonemia and encephalopathy in patients with multiple myeloma
    Giampaolo Talamo
    Am J Hematol 82:414-5. 2007
  46. ncbi Recognition of Zellweger syndrome in infancy
    Jennifer Grayer
    Neonatal Intensive Care Unit, Women s Hospital of Greensboro, 801 Green Valley Road, Greensboro, NC 27408, USA
    Adv Neonatal Care 5:5-13. 2005
    ..An emphasis on family support through genetic counseling and the integration of palliative resources to enhance quality of life for infants and families with this lethal condition is provided...
  47. pmc Cognitive and anatomic contributions of metabolic decline in Alzheimer disease and cerebrovascular disease
    Beth Kuczynski
    Helen Wills Neuroscience Institute and the Lawrence Berkeley National Laboratory, University of California, Berkeley, CA 94720, USA
    Arch Neurol 65:650-5. 2008
    ..Understanding how each disease contributes to dementia is essential from both a pathophysiologic and diagnostic perspective...
  48. ncbi Evaluation of the effect of chronic administration of drugs on rat behavior in the water maze task
    Leticia F Pettenuzzo
    Departamento de Bioqui mica, Instituto de Ciencias Basicas da Saude, Universidade Federal do Rio Grande do Sul, Av Ramiro Barcelos, 2600 Anexo, CEP 90035003, Rio Grande do Sul, Porto Alegre, Brazil
    Brain Res Brain Res Protoc 12:109-15. 2003
    ..Moreover, motor activity, evaluated by the swim speed in the maze, was not altered by MA administration. These results are consistent with perseverative behavior...
  49. ncbi Nonspecific mitochondrial disease with epilepsy in children: diagnostic approaches and epileptic phenotypes
    Hoon Chul Kang
    Department of Pediatrics, Epilepsy Center, Sanggye Paik Hospital, Inje University College of Medicine, Sang gye 7 Dong 761 1, Nowon Gu, Seoul 139 707, South Korea
    Childs Nerv Syst 23:1301-7. 2007
    ..This study sought to characterize epileptic phenotypes in children with nonspecific mitochondrial disease (MD) and to evaluate MD diagnostic approaches...
  50. ncbi Creutzfeldt-Jakob disease in Austria: an autopsy-controlled study
    Ellen Gelpi
    Institute of Neurology and Austrian Reference Centre for Human Prion Diseases, Medical University of Vienna, Vienna, Austria
    Neuroepidemiology 30:215-21. 2008
    ..Epidemiology of human TSEs has relied on definite as well as 'probable' cases in which neuropathological confirmation is lacking, usually because of low autopsy rates in most countries...
  51. ncbi Diagnostic value of proton MR spectroscopy and diffusion-weighted MR imaging in childhood inherited neurometabolic brain diseases and review of the literature
    Handan Cakmakci
    Dokuz Eylul University, Faculty of Medicine, Department of Radiology, Izmir, Turkey
    Eur J Radiol 74:e161-71. 2010
    ..an overview of the current literature about the diagnostic data of both techniques in childhood inherited metabolic brain diseases. The study group was consisting, 19 patients (15 males, 4 females; mean age, 54 months (4...
  52. ncbi [Brain syndrome and home ventilation--diagnosis, therapy and consequences]
    M Winterholler
    Neurologische Klinik und Poliklinik der Friedrich Alexander Universität Erlangen
    Med Klin (Munich) 94:62-5. 1999
    ..A growing number of patients with neuromuscular diseases has been treated with mechanical ventilatory support during the last years. In some of these patients acute or chronic organic brain syndromes complicate the situation...
  53. ncbi [Diagnosis in cerebrospinal fluid: possible applications in neurological practice]
    M M Verbeek
    afd Neurologie, Universitair Medisch Centrum St Radboud, Postbus 9101, 6500 HB Nijmegen
    Ned Tijdschr Geneeskd 149:1833-8. 2005
    ..Contraindications include intracranial space-occupying abnormalities, compression of the spinal cord, haemorrhagic diathesis and abnormalities around the puncture site...
  54. ncbi Choline-deprivation alters crucial brain enzyme activities in a rat model of diabetic encephalopathy
    Charis Liapi
    Department of Pharmacology, Medical School, National and Kapodistrian University of Athens, Athens, Greece
    Metab Brain Dis 25:269-76. 2010
    ..of Ch-deficiency might be unfavorable for the pathology and subsequently for the treatment of several metabolic brain diseases, including that of diabetic encephalopathy...
  55. ncbi Nervous system Lyme disease
    John J Halperin
    NYU School of Medicine, New York, New York, USA
    Vector Borne Zoonotic Dis 2:241-7. 2002
    ..Although some symptoms may persist after this, the data do not suggest that these are responsive to further antimicrobial therapy...
  56. ncbi Levetiracetam accumulation in renal failure causing myoclonic encephalopathy with triphasic waves
    Serge Vulliemoz
    EEG and Epilepsy Unit, University Hospital and Faculty of Medicine of Geneva, 24 Rue Micheli du Crest, 1211 Geneva 14, Switzerland
    Seizure 18:376-8. 2009
    ..In cases of metabolic encephalopathy with triphasic waves in a patient with renal failure taking levetiracetam, it is important to exclude toxic accumulation of levetiracetam among other causes...
  57. ncbi [Neonatal convulsions in health care. I. Incidence, etiology and clinical aspects]
    M C Carrascosa
    Servicio de Neuropediatria, Hospital General de Albacete,
    Rev Neurol 24:1258-62. 1996
    ..Also when methods of clinical inclusion/EEG are used, evaluating only the epileptic phenomena, convulsive crises with minimal clinical signs are observed...
  58. ncbi [Asterixis in focal brain lesions]
    F Velasco
    Servicio y Cátedra de Neurología, Hospital de Cruces, Baracaldo, Vizcaya
    Neurologia 19:225-9. 2004
    ..Although asterixis diagnosis is fundamentally clinical, the neurophysiological study contributes to verify the diagnosis...
  59. ncbi Value of lumbar puncture in the diagnosis of genetic metabolic encephalopathies
    K Hyland
    Department of Neurochemistry, Institute of Metabolic Disease, Baylor University Medical Center, Dallas, TX 75226, USA
    J Child Neurol 14:S9-15. 1999
    ..Those conditions can, in general, be identified only after specialized cerebrospinal fluid testing...
  60. ncbi Sleep disturbances in aspartylglucosaminuria (AGU): a questionnaire study
    Niki Lindblom
    Rinnekoti Sleep Research Centre, Espoo, Finland
    J Inherit Metab Dis 29:637-46. 2006
    ..In conclusion, both children and adults with aspartylglucosaminuria were reported to display several types of sleep disturbances significantly more commonly than healthy controls...
  61. ncbi [Neurological complications after organ transplantation]
    C S Padovan
    Neurologische Klinik, Klinikum Grosshadern, Ludwig Maximilians Universitat Munchen
    Nervenarzt 71:249-58. 2000
    ..In this review, the clinical symptoms and treatment of both the common neurological complications as well as the particular neurological syndromes after liver, heart, and bone marrow transplantation are discussed...
  62. ncbi Management of stroke: a clinical approach
    Kameshwar Prasad
    Department of Neurology, Neurosciences Centre, All India Institute of Medical Sciences, New Delhi 110029
    J Indian Med Assoc 107:392-4, 396-9. 2009
    ..Psychological support, cognitive impairment, motor and sensory impairment are to be addressed. Functional rehabilitation interventions, log-term management and secondary prevention are to be cared for...
  63. ncbi Clinical and neuroradiological diagnostic aspects of neuronal ceroid lipofuscinoses disorders
    P Santavuori
    Department of Neurology, Hospital for Children and Adolescents, University of Helsinki, PL 280, 00029 HUS, Helsinki, Finland
    Eur J Paediatr Neurol 5:157-61. 2001
    ..The combination of ophthalmological deficits and vacuolated lymphocytes is highly characteristic of the juvenile type (CLN3). A new NCL type, Northern epilepsy (CLN8), is also briefly reviewed...
  64. pmc Sparing brain damage in severe sepsis: a beginning
    G Bryan Young
    Departments of Clinical Neurological Sciences and Medicine, The University of Western Ontario, London, Ontario, Canada
    Crit Care 14:159. 2010
    ..Mild cases of SAE are often completely reversible, but there is increasing evidence that severe cases have neurological sequelae. A better understanding of the mechanisms may lead to brain-sparing, protective strategies...
  65. ncbi Epilepsy in the elderly
    Gina Mapes Jetter
    Department of Neurology, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA
    Semin Neurol 28:336-41. 2008
    ..In addition, several of the AEDs have drug-drug interactions, a problem potentially exacerbated in this population of patients due to the use of medications for comorbid conditions...
  66. ncbi PCA-SGA implementation in classification and disease specific feature extraction of the brain MRS signals
    S Zarei Mahmoodabadi
    Department of Electrical Engineering at Ryerson University, Toronto, ON, Canada
    Conf Proc IEEE Eng Med Biol Soc 2008:3526-9. 2008
    ..SGA is later used to extract MRS signal features in case of metabolic brain diseases (MD). The PCA-SGA implementation received the specificity of 89.91%...
  67. ncbi Metabolic evidence of corticolimbic dysregulation in bipolar mania
    John O Brooks
    UCLA Semel Institute, 760 Westwood Plaza, B3 233 NPI, Los Angeles, CA 90024 1759, USA
    Psychiatry Res 181:136-40. 2010
    ..The findings support the hypothesis of corticolimbic dysregulation as a crucial contributor to the pathophysiology of bipolar disorder...
  68. ncbi Hyponatremic and hepatic encephalopathies: similarities, differences and coexistence
    Juan Cordoba
    Servei de Medicina Interna Hepatologia, Hospital Universitari Vall d Hebron, Pg Vall d Hebron 119, Barcelona, 08035, Spain
    Metab Brain Dis 25:73-80. 2010
    ..Recognition of these abnormalities is important to plan therapy. New drugs that affect brain hydration may be useful for both encephalopathies...
  69. pmc Accumulation of oxidative DNA damage in brain mitochondria in mouse model of hereditary ferritinopathy
    Xiaoling Deng
    Department of Surgery, University of Texas Medical Branch, Galveston, TX 77555, USA
    Neurosci Lett 479:44-8. 2010
    ..Elevated mtDNA damage may impair mitochondrial function and brain energetics and in the long term contribute to neuronal loss and exacerbate neurodegeneration in HF...
  70. ncbi Gamma-hydroxybutyric aciduria: a biochemist's education from a heritable disorder of GABA metabolism
    K M Gibson
    Biochemical Genetics Laboratory, Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon, USA
    J Inherit Metab Dis 28:247-65. 2005
    ..This scientific evolution admirably supports the life and ideals of Dr George Komrower, in whose honour this lecture is named...
  71. ncbi Posterior reversible encephalopathy syndrome--an underrecognized manifestation of systemic lupus erythematosus
    Jason K Kur
    Division of Rheumatology, Department of Medicine, Vancouver General Hospital, University of British Columbia, 895 West 10th Avenue, Vancouver, British Columbia, Canada
    J Rheumatol 33:2178-83. 2006
    ..There is a high likelihood of presentation of this syndrome to a rheumatologist...
  72. ncbi Diffusion tensor imaging demonstrates fiber impairment in Susac syndrome
    I Kleffner
    Department of Neurology, University of Muenster, Albert Schweitzer Str 33, 48129 Muenster, Germany
    Neurology 70:1867-9. 2008
  73. ncbi [Pseudoperiodic EEG heralding a cefepime-induced encephalopathy]
    N Sagot
    Service de Reanimation Medicale, hôpital André Grégoire, Montreuil
    Rev Neurol (Paris) 163:1122-3. 2007
    ..Among these, cefepime encephalopathy should always be considered, particularly in cases of renal failure, because of the reversibility of the symptoms at drug withdrawal...
  74. ncbi Unusual D-lactic acid acidosis from propylene glycol metabolism in overdose
    Philippe G Jorens
    Department of Intensive Care Medicine, University Hospital of Antwerp, Edegem, Belgium
    J Toxicol Clin Toxicol 42:163-9. 2004
    ..To report a case of D-lactic acid acidosis owing to massive oral ingestion of propylene glycol...
  75. ncbi [Septic encephalopathy. Diagnosis und therapy]
    V Eggers
    Klinik fur Anaesthesiologie und operative Intensivmedizin, Universitätsklinikum Charité Campus Mitte, Humboldt Universitat, Berlin
    Anaesthesist 52:294-303. 2003
    ..Further investigations with respect to glutamate receptor antagonists, new radical scavengers, NO- and PARS-inhibitors may show whether these substances are suitable for the prophylaxis or early therapy of septic encephalopathy...
  76. ncbi [Valproic acid in prophylaxis of bipolar disorder. A case of valproate-induced encephalopathy]
    K G Rottach
    Bezirkskrankenhaus Augsburg
    Nervenarzt 71:401-3. 2000
    ..Valproate encephalopathy has been described mainly in patients receiving anticonvulsant polytherapy. This complication might become more prevalent in psychiatric pharmacotherapy due to the increasing use of valproic acid...
  77. ncbi [Cerebral palsy: prenatal risk factors]
    J M Pascual
    Division of Pediatric Neurology, Columbia University, Children s Hospital of New York, New York, USA
    Rev Neurol 37:275-80. 2003
    ..Finally, we briefly cite the curious phenomenon occurring in multiple births, namely the potential of CP in the surviving infant or infants were the others have died in utero...
  78. ncbi Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction
    R Del Bo
    Dino Ferrari Centre, Department of Neurological Sciences, University of Milan, IRCCS Foundation Ospedale Maggiore Policlinico Mangiagalli and Regina Elena, Milan, Italy
    Neurology 71:1959-66. 2008
    ..Complex phenotypes have been described in association with MFN2 gene mutations, including CMT2 with pyramidal features (hereditary motor and sensory neuropathy [HSMN V]) and CMT2 with optic atrophy (HMSN VI)...
  79. ncbi An innovative approach to the treatment of Gaucher disease and possibly other metabolic disorders of the brain
    Roscoe O Brady
    National Institutes of Health, Bethesda, MD 20892 1260, USA
    J Inherit Metab Dis 36:451-4. 2013
    ..Significant increases of its activity were obtained with small molecule inhibitors of histone deacetylase that cross the BBB. The effect of such materials on neuronopathic Gaucher disease and other CNS metabolic disorders is discussed...
  80. ncbi Monitoring of cerebral metabolism: non-ischemic impairment of oxidative metabolism following severe traumatic brain injury
    Jean F Soustiel
    Department of Neurosurgery, Rambam Medical Center, Faculty of Medicine, Technion, Israel Institute of Technology, Haifa 31096, Israel
    Neurol Res 29:654-60. 2007
    ..To investigate and compare the respective dynamics of cerebral blood flow (CBF) and metabolism in response to changes in neurological condition and intracranial pressure (ICP) in severe traumatic brain injury (TBI)...
  81. ncbi Relationships between white matter metabolite abnormalities, cognitive and social functioning in elderly schizophrenic subjects
    Joseph I Friedman
    Schizophr Res 100:356-8. 2008
  82. ncbi [Brain profile of hypometabolism in early Alzheimer's disease: relationships with cognitive deficits and atrophy]
    G Chetelat
    INSERM, EPHE, Universite de Caen, Unité E0218, GIP Cyceron, Caen, France
    Rev Neurol (Paris) 162:945-51. 2006
    ....
  83. ncbi Critical care medicine update: essentials for the nonintensivist, part 1
    Chandra K Katikireddy
    Division of Pulmonary and Critical Care Medicine, Stanford University, Stanford, CA, USA
    Compr Ther 32:74-81. 2006
    ..In Part 1 we review (a) altered states of consciousness and sedation, (b) respiratory failure and ventilators, (c) cardiovascular monitoring and management, and (d) fluid and electrolyte disorders...
  84. pmc Pancreatic encephalopathy and Wernicke encephalopathy in association with acute pancreatitis: a clinical study
    Guo Hui Sun
    Department of Gastroenterology, Chinese PLA General Hospital, Beijing 100853, China
    World J Gastroenterol 12:4224-7. 2006
    ..To investigate clinical characteristics and therapy of pancreatic encephalopathy (PE) and Wernicke encephalopathy (WE)...
  85. ncbi Diagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency
    Laura M Pollard
    Greenwood Genetic Center, Greenwood, South Carolina, USA
    J Child Neurol 25:954-60. 2010
    ..However, they emphasize the need for timely diagnosis to urgently implement prophylactic treatment for life-threatening metabolic crises with low protein/fat diets supplemented with riboflavin and carnitine...
  86. ncbi A case of drug-induced hypersensitivity syndrome-like symptoms following HHV-6 encephalopathy
    Satoshi Saida
    Department of Pediatrics, Japanese Red Cross Wakayama Medical Center, Wakayama, Japan
    Allergol Int 59:83-6. 2010
    ..We report on a case with DIHS-like symptoms following human herpes virus 6 (HHV-6) infection complicated with encephalopathy...
  87. ncbi Multi-organ toxicity and death following acute unintentional inhalation of paint thinner fumes
    Shakeel A Zaidi
    National Institute of Occupational Health, Ahmedabad, Gujarat, India
    Clin Toxicol (Phila) 45:287-9. 2007
    ..Malfunctioning of the cardiorespiratory, renal, and central nervous systems as a result of latent-toxic effects of solvent exposure has received little attention...
  88. pmc New aspects in the pathogenesis, prevention, and treatment of hyponatremic encephalopathy in children
    Michael L Moritz
    Division of Nephrology, Department of Pediatrics, Children s Hospital of Pittsburgh of UPMC, The University of Pittsburgh School of Medicine, Pittsburgh, PA, USA
    Pediatr Nephrol 25:1225-38. 2010
    ..In this review, we discuss how to recognize patients at risk for inadvertent overcorrection of hyponatremia and what measures should taken to prevent this, including the judicious use of 1-desamino-8d-arginine vasopressin (dDAVP)...
  89. pmc Developmental iodine deficiency and hypothyroidism impair neural development in rat hippocampus: involvement of doublecortin and NCAM-180
    Jian Gong
    Department of Occupational and Environmental Health, School of Public Health, China Medical University, Shenyang, PR China
    BMC Neurosci 11:50. 2010
    ..Here, we explored the roles of hippocampal doublecortin and neural cell adhesion molecule (NCAM)-180 in developmental iodine deficiency and hypothyroidism...
  90. ncbi Cholesterol depletion attenuates tonic release but increases the ambient level of glutamate in rat brain synaptosomes
    Tatiana Borisova
    Department of Neurochemistry, Palladin Institute of Biochemistry, NAS of Ukraine, 9 Leontovicha Street, Kiev 01601, Ukraine
    Neurochem Int 56:466-78. 2010
    ..Thus, increased extracellular glutamate in cholesterol-deficient nerve terminals was not a result of the changes in tonic release and/or glutamine synthetase activity, but was set by lack function of glutamate transporters...
  91. pmc Postsynaptic density-93 deficiency protects cultured cortical neurons from N-methyl-D-aspartate receptor-triggered neurotoxicity
    M Zhang
    Department of Neurology, Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, Jiangsu Province, PR China
    Neuroscience 166:1083-90. 2010
    ..Since NMDARs, Ca(2+), and NO play a critical role during the development of brain trauma, seizures, and ischemia, the present work suggests that PSD-93 might contribute to molecular mechanisms of neuronal damage in these brain disorders...
  92. ncbi Hashimoto encephalopathy and Down syndrome
    Amy Brodtmann
    National Stroke Research Institute, Level 1, Neurosciences Building, Austin Health, Heidelberg 3084, Australia
    Arch Neurol 66:663-6. 2009
    ..Both congenital hypothyroidism and acquired hypothyroidism are common in patients with Down syndrome...
  93. ncbi Sporadic Creutzfeldt-Jakob disease--a review
    Stuti Sharma
    Department of Biochemistry, Kasturba Medical College, Manipal University, Manipal, Karnataka, India
    Int J Neurosci 119:1981-94. 2009
    ..Other metabolic encephalopathies were ruled out. With sodium valproate and clonezepam, her myoclonic jerks improved slightly. As CJD is an incurable disease, no definitive treatment could be given...
  94. ncbi Endocrine consequences of childhood malignancies
    F Karachaliou
    Department of Growth and Development, P and A Kyriakou Children s Hospital, Athens, Greece
    J BUON 14:27-32. 2009
    ..Long-term follow-up is indicated, as these disorders may not become apparent until adulthood...
  95. ncbi Atypical glycine encephalopathy in an extremely low birth weight infant: description of a new mutation and clinical and electroencephalographic analysis
    Jose Manuel Pardal-Fernández
    Department of Clinical Neurophysiology, University General Hospital, Albacete, Spain
    Epileptic Disord 11:48-53. 2009
    ..Genetic analysis showed a non-previously described mutation affecting a consensus splice site (IVS2-1G > C 3) in the AMT gene encoding the T protein of the glycine cleavage system...
  96. ncbi Reversible splenial abnormality in hypoglycemic encephalopathy
    Ji Hyun Kim
    Department of Neurology, Guro Hospital, Korea University School of Medicine, 80 Guro dong, Guro Ku, Seoul, 152 703, South Korea
    Neuroradiology 49:217-22. 2007
    ..Lesions involving the splenium of the corpus callosum (SCC) have been rarely reported in cases of hypoglycemic brain injury...
  97. pmc Enhancement of L-3-hydroxybutyryl-CoA dehydrogenase activity and circulating ketone body levels by pantethine. Relevance to dopaminergic injury
    Emilie Cornille
    Neurobiologie des Interactions Cellulaires et Neurophysiopathologie, UMR CNRS 6184, Universite de la Mediterranee, 13015 Marseille, France
    BMC Neurosci 11:51. 2010
    ..Since the active moiety of CoA is pantetheine, mice were treated with pantethine, its naturally-occurring form. Pantethine has the advantage of being known as an anti-inflammatory and hypolipidemic agent with very few side effects...
  98. doi The importance of metabolic testing in the evaluation of intellectual disability
    Sabine Mueller
    Ann Neurol 64:113-4. 2008
  99. ncbi Hypercytokinemia-induced metabolic encephalopathy in a multiple myeloma patient on hemodialysis undergoing autologous stem cell transplantation: clinical response after plasma exchange
    Daniele Focosi
    Division of Hematology, Department of Oncology, Transplants and Advances in Medicine, University of Pisa, Italy
    Transpl Immunol 21:240-3. 2009
    ..We discuss here the pathogenesis and raise an alert for monitoring cytokine levels in patients with renal failure undergoing high-dose chemotherapy...
  100. pmc Expression in brain of amyloid precursor protein mutated in the alpha-secretase site causes disturbed behavior, neuronal degeneration and premature death in transgenic mice
    D Moechars
    Experimental Genetics Group, Center for Human Genetics, Leuven, Belgium
    EMBO J 15:1265-74. 1996
    ..The data demonstrate that incomplete or incorrect alpha-secretase processing of APP results in severe neurotoxicity and that this effect is expressed in a dominant manner...
  101. ncbi Blood harmane concentrations and dietary protein consumption in essential tremor
    E D Louis
    The Gertrude H Sergievsky Center, Department of Neurology, Taub Institute for Alzheimer s Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA
    Neurology 65:391-6. 2005
    ..Whether this difference is due to greater animal protein consumption by patients or their failure to metabolize harmane is unknown...

Research Grants15

  1. CELLULAR BIOLOGY OF BRAIN MICROVESSELS
    Sami Harik; Fiscal Year: 1992
    ..The proposed research may provide scientific bases for rational therapy of cerebrovascular disorders, metabolic encephalopathies and neurodegenerative disorders such as Parkinson's Disease...
  2. DEVELOPMENTAL CEREBRAL BLOOD FLOW AND METABOLISM
    ROBERT VANNUCCI; Fiscal Year: 2002
    ..abstract_text> ..
  3. EMISSION COMPUTED TOMOGRAPHY OF LOCAL CEREBRAL FUNCTIONS
    David Kuhl; Fiscal Year: 1980
    ....
  4. In Vivo CSF Shunt Hydrodynamics in Hydrocephalus
    Marvin Bergsneider; Fiscal Year: 2010
    ..Documenting definitive evidence of the tuned-dynamic absorber model could have fundamental implications to all ICP disorders. ..
  5. The effect of macrophage sphingomyelin synthase (SMS) on atherosclerosis
    Xian Cheng Jiang; Fiscal Year: 2010
    ....
  6. The Role of Plasma Phospholipid Transfer Protein in Atherosclerosis
    Xian Cheng Jiang; Fiscal Year: 2010
    ....
  7. LOCALIZATION OF EPILEPTIC FOCI WITH PET IN CHILDREN
    Harry Chugani; Fiscal Year: 2009
    ..abstract_text> ..
  8. Effects of Age on Ethanol Withdrawal Toxicity: Mechanisms and Therapy
    Marianna E Jung; Fiscal Year: 2010
    ..These studies may ultimately contribute to a better understanding of and strategy for female alcoholics undergoing EW during brain aging. ..
  9. Aging-Related Models and Mitochondrial Bioenergetics
    David Nicholls; Fiscal Year: 2006
    ..3. To indicate therapeutic strategies whereby the deleterious consequences of aging-related changes in mitochondrial function can be minimized. ..
  10. Mitochondrial control of neuronal excitotoxicity
    David Nicholls; Fiscal Year: 2005
    ..4. To test the hypothesis that mitochondria at specific intracellular locations may be selectively vulnerable to glutamate excitotoxicity because of their proximity to NMDA receptors, or their location in regions of high-energy demand. ..
  11. THE ROLE OF PLASMA SPHINGOMYELIN IN ATHEROSCLEROSIS
    Xian Cheng Jiang; Fiscal Year: 2004
    ..If the enrichment of SM in plasma has pro-atherogenic activity, as anticipated, then the inhibition of SPT, the key enzyme for SM biosynthesis, could be an important treatment for atherosclerosis. ..
  12. Gene Expression in Alzheimer's Disease
    Walter Lukiw; Fiscal Year: 2006
    ..abstract_text> ..
  13. In Vivo Imaging of Post-Traumatic Cerebral Amyloid Deposition
    Marvin Bergsneider; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  14. CLINICAL RESEARCH CENTER FOR NEUROMUSCULAR DISEASE
    Salvatore DiMauro; Fiscal Year: 2007
    ....
  15. A HEMODYNAMIC MODEL OF INTRACRANIAL PRESSURE DYNAMICS
    Marvin Bergsneider; Fiscal Year: 2002
    ..An improved understanding of these disorders will offer new and better treatment modalities for millions of affected patients. ..