familial dysautonomia

Summary

Summary: An autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashkenazic Jewish descent. Clinical manifestations are present at birth and include diminished lacrimation, defective thermoregulation, orthostatic hypotension (HYPOTENSION, ORTHOSTATIC), fixed pupils, excessive SWEATING, loss of pain and temperature sensation, and absent reflexes. Pathologic features include reduced numbers of small diameter peripheral nerve fibers and autonomic ganglion neurons. (From Adams et al., Principles of Neurology, 6th ed, p1348; Nat Genet 1993;4(2):160-4)

Top Publications

  1. pmc Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs
    Gabsang Lee
    Developmental Biology Program, Sloan Kettering Institute, 1275 York Ave, USA
    Nature 461:402-6. 2009
  2. ncbi Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis
    A Blumenfeld
    Molecular Neurogenetics Unit, Massachusetts General Hospital, Boston 02129
    Nat Genet 4:160-4. 1993
  3. ncbi Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31
    B P Chadwick
    Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, Massachusetts, USA
    Mamm Genome 11:81-3. 2000
  4. ncbi Neuroimaging supports central pathology in familial dysautonomia
    Felicia B Axelrod
    Department of Pediatrics, New York University School of Medicine, 530 First Avenue, Suite 9Q, New York, NY 10016, USA
    J Neurol 257:198-206. 2010
  5. pmc Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia
    S A Slaugenhaupt
    Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, MA, USA
    Am J Hum Genet 68:598-605. 2001
  6. pmc Sudomotor function in familial dysautonomia
    A Bickel
    Department of Neurology, University Erlangen Nuremberg, Germany
    J Neurol Neurosurg Psychiatry 75:275-9. 2004
  7. ncbi Effect of physical countermaneuvers on orthostatic hypotension in familial dysautonomia
    Marcin Tutaj
    Department of Neurology, Jagiellonian University, Botaniczna 3, 31503, Krakow, Poland
    J Neurol 253:65-72. 2006
  8. ncbi Prevalence and severity of renal disease in familial dysautonomia
    Lior Elkayam
    Dysautonomia Treatment and Evaluation Center, New York University School of Medicine, New York, NY, USA
    Am J Kidney Dis 48:780-6. 2006
  9. ncbi Assessing function and pathology in familial dysautonomia: assessment of temperature perception, sweating and cutaneous innervation
    Max J Hilz
    Department of Neurology, New York University Medical Center, 550 First Avenue, Suite NB 7W11, New York, NY, 10016, USA
    Brain 127:2090-8. 2004
  10. pmc Familial dysautonomia is caused by mutations of the IKAP gene
    S L Anderson
    Department of Biological Sciences, Fordham University, Bronx, NY, 10458, USA
    Am J Hum Genet 68:753-8. 2001

Research Grants

  1. Autonomic Rare Diseases Clinical Research Consortium
    DAVID HERLIE ROBERTSON; Fiscal Year: 2013
  2. Carbidopa for the treatment of nausea and vomiting in familial dysautonomiaIND #
    Horacio Kaufmann; Fiscal Year: 2010
  3. CSHL RNA &Oligonucleotide Therapeutics Conference
    David J Stewart; Fiscal Year: 2013
  4. DRG Progenitor: Role of extrinsic and intrinsic cues
    Frances Lefcort; Fiscal Year: 2013
  5. Characterization of autonomic dysfunction in Rett syndrome &other MECP2 disorder
    Jeffrey L Neul; Fiscal Year: 2013
  6. IKBKAP function in SNS development
    Warren G Tourtellotte; Fiscal Year: 2011
  7. MECHANISM OF FAMILIAL DYSAUTONOMIA
    Susan A Slaugenhaupt; Fiscal Year: 2013
  8. In vitro and in vivo functional analysis of Ikbkap in Familial Dysautonomia
    MARISA ZOE TATIANA JACKSON; Fiscal Year: 2013
  9. Development of kinetin as a treatment for familial dysautonomia
    Susan Slaugenhaupt; Fiscal Year: 2009
  10. Mentoring and Research in Mouse Pathobiology
    Warren G Tourtellotte; Fiscal Year: 2013

Detail Information

Publications147 found, 100 shown here

  1. pmc Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs
    Gabsang Lee
    Developmental Biology Program, Sloan Kettering Institute, 1275 York Ave, USA
    Nature 461:402-6. 2009
    ..b>Familial dysautonomia (FD) is a rare but fatal peripheral neuropathy, caused by a point mutation in the IKBKAP gene involved in ..
  2. ncbi Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis
    A Blumenfeld
    Molecular Neurogenetics Unit, Massachusetts General Hospital, Boston 02129
    Nat Genet 4:160-4. 1993
    b>Familial dysautonomia (DYS), the Riley-Day syndrome, is an autosomal recessive disorder characterized by developmental loss of neurons from the sensory and autonomic nervous system...
  3. ncbi Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31
    B P Chadwick
    Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, Massachusetts, USA
    Mamm Genome 11:81-3. 2000
  4. ncbi Neuroimaging supports central pathology in familial dysautonomia
    Felicia B Axelrod
    Department of Pediatrics, New York University School of Medicine, 530 First Avenue, Suite 9Q, New York, NY 10016, USA
    J Neurol 257:198-206. 2010
    b>Familial dysautonomia (FD) is a hereditary peripheral and central nervous system disorder with poorly defined central neuropathology...
  5. pmc Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia
    S A Slaugenhaupt
    Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, MA, USA
    Am J Hum Genet 68:598-605. 2001
    b>Familial dysautonomia (FD; also known as "Riley-Day syndrome"), an Ashkenazi Jewish disorder, is the best known and most frequent of a group of congenital sensory neuropathies and is characterized by widespread sensory and variable ..
  6. pmc Sudomotor function in familial dysautonomia
    A Bickel
    Department of Neurology, University Erlangen Nuremberg, Germany
    J Neurol Neurosurg Psychiatry 75:275-9. 2004
    Patients with familial dysautonomia (FD) manifest episodic hyperhidrosis despite the reduction of sudomotor fibres and sweat glands associated with this autonomic neuropathy...
  7. ncbi Effect of physical countermaneuvers on orthostatic hypotension in familial dysautonomia
    Marcin Tutaj
    Department of Neurology, Jagiellonian University, Botaniczna 3, 31503, Krakow, Poland
    J Neurol 253:65-72. 2006
    b>Familial dysautonomia (FD) patients frequently experience debilitating orthostatic hypotension...
  8. ncbi Prevalence and severity of renal disease in familial dysautonomia
    Lior Elkayam
    Dysautonomia Treatment and Evaluation Center, New York University School of Medicine, New York, NY, USA
    Am J Kidney Dis 48:780-6. 2006
    One of the less well-defined complications of familial dysautonomia (FD) is chronic kidney disease (CKD)...
  9. ncbi Assessing function and pathology in familial dysautonomia: assessment of temperature perception, sweating and cutaneous innervation
    Max J Hilz
    Department of Neurology, New York University Medical Center, 550 First Avenue, Suite NB 7W11, New York, NY, 10016, USA
    Brain 127:2090-8. 2004
    ..performed to assess cutaneous nerve fibre loss in conjunction with temperature and sweating dysfunction in familial dysautonomia (FD)...
  10. pmc Familial dysautonomia is caused by mutations of the IKAP gene
    S L Anderson
    Department of Biological Sciences, Fordham University, Bronx, NY, 10458, USA
    Am J Hum Genet 68:753-8. 2001
    The defective gene DYS, which is responsible for familial dysautonomia (FD) and has been mapped to a 0.5-cM region on chromosome 9q31, has eluded identification...
  11. ncbi Potential role of tubulin acetylation and microtubule-based protein trafficking in familial dysautonomia
    John Gardiner
    School of Biological Sciences, Macleay Building A12, Science Road, The University of Sydney, Camperdown 2006, Australia
    Traffic 8:1145-9. 2007
    b>Familial dysautonomia (FD), a disease of the autonomic and sensory nervous systems, involves mutations in the protein IkappaB kinase complex-associated protein, which is a component of the human Elongator acetylase complex...
  12. ncbi Purification and characterization of the human elongator complex
    Nicola A Hawkes
    Mechanisms of Gene Transcription Laboratory, Imperial Cancer Research Fund Clare Hall Laboratories, Blanche Lane, South Mimms, Hertfordshire, EN6 3LD, United Kingdom
    J Biol Chem 277:3047-52. 2002
    ..Mutations in IKAP can result in the severe human disorder familial dysautonomia, raising the possibility that this disease might be due to compromised Elongator function and therefore ..
  13. ncbi Familial dysautonomia: update and recent advances
    Gabrielle Gold-von Simson
    New York University Medical Center, Familial Dysautonomia Treatment and Evaluation Center, New York, New York, USA
    Curr Probl Pediatr Adolesc Health Care 36:218-37. 2006
  14. ncbi Of splice and men: what does the distribution of IKAP mRNA in the rat tell us about the pathogenesis of familial dysautonomia?
    Eva Mezey
    Basic Neuroscience Program, NINDS, NIH, Building 36, Room 3D 06, Bethesda, MD 20892, USA
    Brain Res 983:209-14. 2003
    b>Familial dysautonomia (FD) is the best-known and most common member of a group of congenital sensory/autonomic neuropathies characterized by widespread sensory and variable autonomic dysfunction...
  15. ncbi Tocotrienols induce IKBKAP expression: a possible therapy for familial dysautonomia
    Sylvia L Anderson
    Laboratory for Familial Dysautonomia Research, Department of Biological Sciences, Fordham University, Bronx, NY, USA
    Biochem Biophys Res Commun 306:303-9. 2003
    b>Familial dysautonomia (FD), a neurodegenerative genetic disorder primarily affecting individuals of Ashkenazi Jewish descent, is caused by mutations in the IKBKAP gene which encodes the IkappaB kinase complex-associated protein (IKAP)...
  16. ncbi Orthopaedic manifestations of familial dysautonomia. A review of one hundred and thirty-six patients
    E Bar-On
    Hadassah Medical Center, Jerusalem, Israel
    J Bone Joint Surg Am 82:1563-70. 2000
    b>Familial dysautonomia is a hereditary multisystemic disease primarily affecting people of Ashkenazi Jewish descent. Musculoskeletal problems are related to gait disorders, spinal deformities, foot deformities, fractures, and arthropathies.
  17. ncbi Bone mineral density and metabolism in familial dysautonomia
    C Maayan
    Department of Pediatrics, Hadassah University Hospital, Mount Scopus, Hebrew University Hadassah Medical School, Jerusalem, Israel
    Osteoporos Int 13:429-33. 2002
    b>Familial dysautonomia (FD) patients suffer from multiple fractures and have reduced bone pain, which defers the diagnosis. The pathogenesis of bone fragility in FD is unknown...
  18. ncbi Transcription impairment and cell migration defects in elongator-depleted cells: implication for familial dysautonomia
    Pierre Close
    Laboratory of Medical Chemistry and Human Genetics, Center for Biomedical Integrative Genoproteomics, University of Liege, Belgium
    Mol Cell 22:521-31. 2006
    Mutations in IKBKAP, encoding a subunit of Elongator, cause familial dysautonomia (FD), a severe neurodevelopmental disease with complex clinical characteristics...
  19. ncbi The molecular basis of familial dysautonomia: overview, new discoveries and implications for directed therapies
    Berish Y Rubin
    Department of Biological Sciences, Laboratory for Familial Dysautonomia Research, Fordham University, 441 East Fordham Road, Bronx, NY 10458, USA
    Neuromolecular Med 10:148-56. 2008
    b>Familial dysautonomia (FD) is a sensory and autonomic neuropathy that affects the development and survival of sensory, sympathetic, and some parasympathetic neurons...
  20. pmc Loss-of-function of IKAP/ELP1: could neuronal migration defect underlie familial dysautonomia?
    Tiina Naumanen
    Biotech Research and Innovation Centre, The Faculty of Pharmaceutical Sciences, University of Copenhagen, Copenhagen, Denmark
    Cell Adh Migr 2:236-9. 2008
    b>Familial dysautonomia (FD) is a hereditary neuronal disease characterized by poor development and progressive degeneration of the sensory and autonomic nervous system. Majority of FD (99...
  21. pmc Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia
    Math P Cuajungco
    Harvard Institute of Human Genetics, Harvard Medical School, Boston, MA, USA
    Am J Hum Genet 72:749-58. 2003
    ..identified a mutation in the I-kappa B kinase associated protein (IKBKAP) gene as the major cause of familial dysautonomia (FD), a recessive sensory and autonomic neuropathy...
  22. ncbi Familial dysautonomia
    Felicia B Axelrod
    Departments of Pediatrics and Neurology, New York University Medical Center, 530 First Avenue, New York, New York 10016, USA
    Muscle Nerve 29:352-63. 2004
    b>Familial dysautonomia (FD) is a neurodevelopmental genetic disorder within the larger classification of hereditary sensory and autonomic neuropathies, each caused by a different genetic error. The FD gene has been identified as IKBKAP...
  23. ncbi Survival in familial dysautonomia: Impact of early intervention
    Felicia B Axelrod
    Department of Pediatrics, New York University School of Medicine, New York City, New York, USA
    J Pediatr 141:518-23. 2002
    To assess the effectiveness of advances in supportive centralized care on survival and function in patients with familial dysautonomia (FD).
  24. ncbi Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia
    El Cherif Ibrahim
    Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA
    Hum Mutat 28:41-53. 2007
    ..An example of this phenomenon is observed in the neurodevelopmental disease familial dysautonomia (FD), which is caused by a single-base change in the 5' splice site (5'ss) of intron 20 in the IKBKAP gene ..
  25. ncbi Kinetin in familial dysautonomia carriers: implications for a new therapeutic strategy targeting mRNA splicing
    Gabrielle Gold-von Simson
    Department of Pediatrics, New York University School of Medicine, New York, New York 10016, USA
    Pediatr Res 65:341-6. 2009
    b>Familial dysautonomia (FD) is caused by an intronic splice mutation in the IkappaB kinase-associated protein gene (IKBKAP) that leads to partial skipping of exon 20 and tissue-specific reduction of IkappaB kinase-associated protein/..
  26. ncbi Familial dysautonomia
    Susan A Slaugenhaupt
    Harvard Institute of Human Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
    Curr Opin Genet Dev 12:307-11. 2002
    b>Familial dysautonomia is a developmental disorder of the sensory and autonomic nervous system. Recent studies have shown that two mutations in the gene IKBKAP are responsible for the disease...
  27. ncbi Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia
    Matthew M Hims
    Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    J Mol Med (Berl) 85:149-61. 2007
    Mutations that affect the splicing of pre-mRNA are a major cause of human disease. Familial dysautonomia (FD) is a recessive neurodegenerative disease caused by a T to C transition at base pair 6 of IKBKAP intron 20...
  28. ncbi IKAP/hELP1 deficiency in the cerebrum of familial dysautonomia patients results in down regulation of genes involved in oligodendrocyte differentiation and in myelination
    David Cheishvili
    Department of Pediatrics, Hadassah University Hospital, Mount Scopus, Jerusalem, Israel
    Hum Mol Genet 16:2097-104. 2007
    The gene affected in the congenital neuropathy familial dysautonomia (FD) is IKBKAP that codes for the IKAP/hELP1 protein...
  29. ncbi Screening for familial dysautonomia in Israel: evidence for higher carrier rate among Polish Ashkenazi Jews
    Ofer Lehavi
    Prenatal Diagnosis Division, Genetic Institute and Department of Obstetrics and Gynecology, Lis Maternity Hospital, Tel Aviv, Israel
    Genet Test 7:139-42. 2003
    b>Familial dysautonomia (FD) is an autosomal recessive disorder characterized by hereditary sensory and autonomic neuropathies...
  30. ncbi Decreased density of ganglia and neurons in the myenteric plexus of familial dysautonomia patients
    Amir Bar-Shai
    The Laboratory of Experimental Surgery, Hadassah University Hospital, Mount Scopus, P O Box 24035, Jerusalem 91240, Israel
    J Neurol Sci 220:89-94. 2004
    b>Familial dysautonomia (FD) is a hereditary disease of the autonomic and sensory nervous system. A prominent manifestation of FD is gastrointestinal dyscoordination, which contributes to the morbidity and mortality in FD.
  31. ncbi Cardiac pacing in patients with familial dysautonomia--there is nothing simple about sudden death
    Angelo Bartoletti
    Clin Auton Res 15:6-9. 2005
  32. ncbi Identification of the first non-Jewish mutation in familial Dysautonomia
    Maire Leyne
    Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, USA
    Am J Med Genet A 118:305-8. 2003
    b>Familial Dysautonomia is an autosomal recessive disease with a remarkably high carrier frequency in the Ashkenazi Jewish population. It has recently been estimated that as many as 1 in 27 Ashkenazi Jews is a carrier of FD...
  33. ncbi Rescue of a human mRNA splicing defect by the plant cytokinin kinetin
    Susan A Slaugenhaupt
    Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Charlestown, MA 02129, USA
    Hum Mol Genet 13:429-36. 2004
    ..b>Familial dysautonomia (FD) is caused by mutations in IKBKAP, and all cases described to date involve an intron 20 mutation that ..
  34. ncbi Orthostatic challenge reveals impaired vascular resistance control, but normal venous pooling and capillary filtration in familial dysautonomia
    Clive M Brown
    Autonomic Laboratory, Department of Neurology, University of Erlangen Nuremberg, Schwabachanlage 6, 91054 Erlangen, Germany
    Clin Sci (Lond) 104:163-9. 2003
    Patients with familial dysautonomia (FD) frequently have profound orthostatic hypotension without compensatory tachycardia...
  35. ncbi Tocotrienols reverse IKAP and monoamine oxidase deficiencies in familial dysautonomia
    Sylvia L Anderson
    Laboratory for Familial Dysautonomia Research, Department of Biological Sciences, Fordham University, Bronx, NY 10458, USA
    Biochem Biophys Res Commun 336:150-6. 2005
    b>Familial dysautonomia (FD), a recessive neurodegenerative disease, is caused by mutations in the IKBKAP gene that result in the production of nonfunctional IKAP protein...
  36. ncbi EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia
    Sylvia L Anderson
    Laboratory for Familial Dysautonomia Research, Department of Biological Sciences, Fordham University, Bronx, NY, USA
    Biochem Biophys Res Commun 310:627-33. 2003
    b>Familial dysautonomia (FD) is an autosomal recessive neurodegenerative disorder...
  37. ncbi Gynecological aspects of female familial dysautonomia
    C Maayan
    Department of Pediatrics, Hadassah University Hospital, Mt Scopus, Jerusalem, Israel
    Isr Med Assoc J 2:679-83. 2000
    b>Familial dysautonomia is a genetic disease in which there is a defect in the autonomic and sensory nervous systems. These systems have a major role in the reproductive system.
  38. ncbi Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31
    B P Chadwick
    Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA
    Genomics 58:302-9. 1999
    ..genes, ACTL7A and ACTL7B, were identified by cDNA selection and direct genomic sequencing from the familial dysautonomia candidate region on 9q31. ACTL7A encodes a 435-amino-acid protein (predicted molecular mass 48...
  39. ncbi Cardiac sympathetic hypo-innervation in familial dysautonomia
    David S Goldstein
    Clinical Neurocardiology Section, National Institute of Neurological Disorders and Stroke, NIH, 10 Center Drive MSC 1620, Building 10 Room 6N252, Bethesda, MD 20892 1620, USA
    Clin Auton Res 18:115-9. 2008
    b>Familial dysautonomia (FD) involves incomplete development of the sympathetic nervous system. Whether such loss extends to sympathetic innervation of the heart has been unknown...
  40. ncbi Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews
    Jianli Dong
    Department of Human Genetics, Mount Sinai School of Medicine of New York University, New York, New York 10029, USA
    Am J Med Genet 110:253-7. 2002
    b>Familial dysautonomia (FD) is an autosomal recessive congenital neuropathy that occurs almost exclusively in the Ashkenazi Jewish (AJ) population. Mutations in the IkappaB kinase complex-associated protein (IKBKAP) gene cause FD...
  41. ncbi Advanced electrocardiographic predictors of mortality in familial dysautonomia
    I Solaimanzadeh
    National Space Biomedical Research Institute, Houston, Texas, USAA
    Auton Neurosci 144:76-82. 2008
    To identify electrocardiographic predictors of mortality in patients with familial dysautonomia (FD).
  42. ncbi Respiratory and cerebrovascular responses to hypoxia and hypercapnia in familial dysautonomia
    Luciano Bernardi
    New York University Medical Center, New York University School of Medicine, New York, USA
    Am J Respir Crit Care Med 167:141-9. 2003
    Although cardiorespiratory complications contribute to the high morbidity/mortality of familial dysautonomia (FD), the mechanisms remain unclear...
  43. pmc Dermal microdialysis provides evidence for hypersensitivity to noradrenaline in patients with familial dysautonomia
    A Bickel
    Neurologische Klinik, Universitat Erlangen Nurnberg, Schwabachanlage 6, 91054 Erlangen, Germany
    J Neurol Neurosurg Psychiatry 73:299-302. 2002
    To use the technique of dermal microdialysis to examine sensitivity of skin vessels to noradrenaline (NA) in patients with familial dysautonomia (FD) and in healthy controls.
  44. ncbi Familial dysautonomia: a review of the current pharmacological treatments
    Felicia B Axelrod
    Department of Pediatrics, New York University School of Medicine, 530 First Avenue, New York, NY 10016, USA
    Expert Opin Pharmacother 6:561-7. 2005
    Treatment of familial dysautonomia, a genetic disorder affecting neuronal development and survival, has improved morbidity and survival for this disorder...
  45. ncbi Pacemakers in patients with familial dysautonomia--a review of experience with 20 patients
    Gabrielle Gold-von Simson
    Dept of Pediatrics, New York University School of Medicine, New York, NY, USA
    Clin Auton Res 15:15-20. 2005
    b>Familial dysautonomia (FD) is a genetic disease associated with a high incidence of sudden death. If fatal bradyarrhythmia is an etiological factor then the incidence of sudden death should decrease after pacemaker placement...
  46. ncbi The effect of hereditary disorders on tooth components: a radiographic morphometric study of two syndromes
    Uri Zilberman
    Laboratory of Bioanthropology and Ancient DNA, Faculty of Dental Medicine, Hebrew University, Hadassah, Jerusalem, Israel
    Arch Oral Biol 49:621-9. 2004
    The purpose of this study was to compare tooth components (enamel and dentin) in Familial Dysautonomia (FD) and Down syndrome (DS) in order to assess the extent to which each was affected.
  47. ncbi Familial dysautonomia: frequent, prolonged and severe hypoxemia during wakefulness and sleep
    Debra E Weese-Mayer
    Pediatric Respiratory Medicine, Rush University Medical Center, Chicago, Illinois, USA corrected
    Pediatr Pulmonol 43:251-60. 2008
    Sudden unexplained deaths have been reported in 13% [corrected] of Familial Dysautonomia (FD) subjects...
  48. ncbi Can the therapeutic efficacy of tocotrienols in neurodegenerative familial dysautonomia patients be measured clinically?
    Berish Y Rubin
    Laboratory for Familial Dysautonomia Research, Fordham University, Bronx, NY 10458, USA
    Antioxid Redox Signal 10:837-41. 2008
    b>Familial dysautonomia (FD) is an inherited, fatal, neurodegenerative disorder manifested by autonomic/hypertensive crises and cardiac instability...
  49. ncbi IKBKAP mRNA in peripheral blood leukocytes: a molecular marker of gene expression and splicing in familial dysautonomia
    Gabrielle Gold-von Simson
    Department of Pediatrics, New York University School of Medicine, New York, New York 10016, USA
    Pediatr Res 63:186-90. 2008
    The common familial dysautonomia (FD) mutation results in tissue specific mis-splicing with reduced amount of wild-type (WT) IkappaB kinase associated protein gene (IKBKAP) mRNA and ELP1...
  50. ncbi Clonidine improves postprandial baroreflex control in familial dysautonomia
    H Marthol
    Department of Neurology, New York University School of Medicine, New York, NY, USA
    Eur J Clin Invest 33:912-8. 2003
    Patients with familial dysautonomia (FD) frequently experience hypertensive crises after gastrostomy feeding. The central alpha2-agonist clonidine attenuates feeding-induced crises...
  51. ncbi Submandibular and sublingual salivary gland function in familial dysautonomia
    Andy Wolff
    Hospital Dentistry Department, Assuta Hospital and Maccabi Health Services, Tel Aviv, Israel
    Oral Surg Oral Med Oral Pathol Oral Radiol Endod 94:315-9. 2002
    Drooling in familial dysautonomia (FD) has been attributed to denervation supersensitivity. The aim of this study was to investigate submandibular and sublingual (SM/SL) gland function in FD.
  52. ncbi Cold pressor test demonstrates residual sympathetic cardiovascular activation in familial dysautonomia
    M J Hilz
    Department of Neurology, New York University, New York, NY 10016, USA
    J Neurol Sci 196:81-9. 2002
    In familial dysautonomia (FD), i.e. Riley-Day-syndrome, sympathetic cardiovascular function, as well as afferent temperature and pain mediating neurons, are significantly reduced...
  53. pmc Transcranial Doppler sonography during head up tilt suggests preserved central sympathetic activation in familial dysautonomia
    M J Hilz
    Department of Neurology, University of Erlangen Nuremberg, Erlangen, Germany
    J Neurol Neurosurg Psychiatry 72:657-60. 2002
    Cerebral autoregulation was assessed by transcranial Doppler sonography in 10 patients with familial dysautonomia and 10 age matched controls.
  54. ncbi Cloning, characterization, and genomic structure of the mouse Ikbkap gene
    M P Cuajungco
    Harvard Institute of Human Genetics and Massachusetts General Hospital, Boston, Massachusetts, USA
    DNA Cell Biol 20:579-86. 2001
    ..reported that mutations in the human I-kappaB kinase-associated protein (IKBKAP) gene are responsible for familial dysautonomia (FD)...
  55. ncbi Assessing efficacy of high-frequency chest wall oscillation in patients with familial dysautonomia
    Philip Giarraffa
    Dysautonomia Center, New York University Medical Center, New York University School Medicine, NY, USA
    Chest 128:3377-81. 2005
    STUDY OBJECTIVE: To determine the benefits of daily use of high-frequency chest wall oscillation (HFCWO) in familial dysautonomia (FD) patients with lung disease...
  56. ncbi Gastroesophageal reflux in familial dysautonomia: correlation with crisis frequency and sensory dysfunction
    Vinay Sundaram
    Department of Neurology, New York University School of Medicine, New York, New York, USA
    J Pediatr Gastroenterol Nutr 40:429-33. 2005
    b>Familial dysautonomia (FD), a genetic disorder resulting in sensory and autonomic nervous system dysfunction, is associated with a high frequency of gastroesophageal reflux (GER)...
  57. ncbi Familial dysautonomia: deep sedation and management in endoscopic procedures
    Dov Wengrower
    Department of Gastroenterology, Hadassah University Hospital, Jerusalem, Israel
    Am J Gastroenterol 97:2550-2. 2002
    b>Familial dysautonomia is a rare genetic disorder that affects the development of the central nervous system, causing GI dysfunction...
  58. ncbi A note on appropriate use of statistical tests of mutation rates from ordered groups
    Joseph L Gastwirth
    Department of Statistics, George Washington University, Washington, DC 20052, USA
    Genet Test 8:437-40. 2004
    Recently it was found that the frequency of familial dysautonomia (FD) carriers in Ashkenazi Jews (AJ) was higher in AJ of Polish descent compared to AJ of non-Polish descent...
  59. ncbi Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene
    R Medori
    Division of Neuropathology, Case Western Reserve University, Cleveland, OH 44106
    N Engl J Med 326:444-9. 1992
    ..Five other family members who died of this disease, which we termed "fatal familial insomnia," had broader neuropathologic changes suggesting that fatal familial insomnia could be a prion disease...
  60. ncbi The insensate burn: pain insensitivity syndrome
    R H J Baker
    The Burns Unit, Mount Vernon Hospital, Rickmansworth Road, Northwood, Middlesex HA6 2RN, UK
    Burns 32:255-7. 2006
  61. ncbi Systemic diseases and the lung
    Robert Dinwiddie
    Respiratory Unit, Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London WC1N 3JH, UK
    Paediatr Respir Rev 6:181-9. 2005
    ..such as Ehlers-Danlos and Marfan's syndrome, lysosomal storage disorders such as mucopolysaccharidoses, familial dysautonomia, Langerhans cell histocytosis, pulmonary lymphangiomatosis, sarcoidosis and sickle cell disease...
  62. ncbi Pediatric autonomic disorders
    Felicia B Axelrod
    Dysautonomia Treatment and Evaluation Center, Department of Pediatrics and Neurology, New York University School of Medicine, 530 First Ave, Suite 9Q, New York, New York 10016, USA
    Pediatrics 118:309-21. 2006
    ..To illustrate further the breadth and complexities of autonomic dysfunction, some pediatric disorders are described, concentrating on those that present at birth or appear in early childhood...
  63. ncbi Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report
    Isabel Mendes Gaspar
    Department of Medical Genetics, Egas Moniz Hospital, Lisboa, Portugal
    Am J Med Genet A 146:1748-53. 2008
    ..The diagnosis was molecularly confirmed by the detection of a homozygous 4 bp deletion (167_170 del TAAC) in exon 3 of LIFR. We compare the findings in this patient to other patients with prolonged survival from the literature...
  64. pmc Structural gene for beta-nerve growth factor not defective in familial dysautonomia
    X O Breakefield
    Proc Natl Acad Sci U S A 81:4213-6. 1984
    The developmental loss of neurons in sympathetic, sensory, and some parasympathetic ganglia in familial dysautonomia suggests an inherited defect in the action of beta-nerve growth factor (beta-NGF)...
  65. ncbi A reinforced suture line prevents recurrence after fundoplication in patients with familial dysautonomia
    Evan P Nadler
    Division of Pediatric Surgery, Department of Surgery, New York University School of Medicine, New York, NY 10016, USA
    J Pediatr Surg 42:653-6. 2007
    Long-term follow-up of fundoplication in patients with familial dysautonomia (FD) has revealed a high rate of recurrent gastroesophageal reflux...
  66. ncbi Chemical senses
    L M Bartoshuk
    Department of Surgery, Yale University School of Medicine, New Haven, Connecticut 06520 8041
    Annu Rev Psychol 45:419-49. 1994
    ..Genetic variation may produce total losses (Kallman's syndrome produces anosmia and familial dysautonomia produces ageusia) or losses specific to certain stimuli...
  67. pmc Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population
    Iris Schrijver
    Department of Pathology, L235, Stanford University Medical Center, 300 Pasteur Dr, Stanford, CA 94305, USA
    J Mol Diagn 9:228-36. 2007
    ..represent the most common variants in Tay-Sachs disease, Bloom syndrome, Canavan disease, Niemann-Pick A, familial dysautonomia, torsion dystonia, mucolipidosis type IV, Fanconi anemia, Gaucher disease, factor XI deficiency, glycogen ..
  68. ncbi Assessment and evaluation of hereditary sensory and autonomic neuropathies with autonomic and neurophysiological examinations
    Max J Hilz
    Department of Neurology, University of Erlangen Nuremberg, Erlangen, Germany
    Clin Auton Res 12:I33-43. 2002
    ..Type III, the autosomal recessive familial dysautonomia (FD), is the most common of the HSANs...
  69. ncbi Selected genetic disorders affecting Ashkenazi Jewish families
    Lenore B Weinstein
    School of Dentistry, Division of Public Health, Marquette University, Milwaukee, WI, USA
    Fam Community Health 30:50-62. 2007
    ..9 disorders and their genetic inheritance patterns: Bloom syndrome; Canavan disease; cystic fibrosis; familial dysautonomia; Fanconi anemia; Gaucher disease; Mucolipidosis IV; Niemann-Pick disease; and Tay-Sachs disease...
  70. ncbi Fludrocortisone in patients with familial dysautonomia--assessing effect on clinical parameters and gene expression
    Felicia B Axelrod
    Dept of Pediatrics, New York University School of Medicine, New York, NY, USA
    Clin Auton Res 15:284-91. 2005
    The common familial dysautonomia (FD) mutation causes a splicing defect that leads to production of both wild-type (WT) and mutant (MU) IKBKAP mRNA...
  71. ncbi The human gene for neurotrophic tyrosine kinase receptor type 2 (NTRK2) is located on chromosome 9 but is not the familial dysautonomia gene
    S A Slaugenhaupt
    Massachusetts General Hospital, Boston 02129, USA
    Genomics 25:730-2. 1995
    ..The neurotrophins and their receptors have long been considered candidate genes for familial dysautonomia (FD), a hereditary sensory neuropathy resulting from the congenital loss of both sensory and autonomic ..
  72. ncbi Allgrove syndrome with features of familial dysautonomia: a novel mutation in the AAAS gene
    Essam A Ismail
    Department of Paediatrics, Farwaniya Hospital, Farwaniya, Kuwait
    Acta Paediatr 95:1140-3. 2006
    ..The index patient was erroneously diagnosed to be a case of familial dysautonomia before the diagnosis of adrenal insufficiency was made at the age of 7...
  73. pmc Dysautonomia, a heuristic approach to a revised model for etiology of disease
    Derrick Lonsdale
    24700 Center Ridge Road, Westlake Ohio 44145, USA
    Evid Based Complement Alternat Med 6:3-10. 2009
    ..This may be a central control mechanism, as in genetically determined familial dysautonomia (Riley-Day Syndrome), or peripherally in the distribution of the sympathetic and parasympathetic systems...
  74. ncbi ELP3 localises to mitochondria and actin-rich domains at edges of HeLa cells
    Deborah Barton
    The School of Biological Sciences, The University of Sydney, Camperdown, NSW 2006, Australia
    Neurosci Lett 455:60-4. 2009
    Motor neuron disease is associated with mutations in the ELP3 protein. Familial dysautonomia is a hereditary disease of the autonomous nervous system that occurs due to a mutation in the IkappaB kinase complex-associated protein (IKAP)...
  75. ncbi A novel specific role for I kappa B kinase complex-associated protein in cytosolic stress signaling
    Christian Holmberg
    Apoptosis Laboratory, Danish Cancer Society, Strandboulevarden 49, DK 2100 Copenhagen, Denmark
    J Biol Chem 277:31918-28. 2002
    ..this region is deleted from IKAP expressed in the autonomous nervous system of the patients affected by familial dysautonomia. Ectopic expression of this C-terminal fragment of IKAP was sufficient to support JNK activation...
  76. pmc Pluripotent stem cells in neurodegenerative and neurodevelopmental diseases
    Maria C N Marchetto
    The Salk Institute for Biological Studies, La Jolla, CA 92037, USA
    Hum Mol Genet 19:R71-6. 2010
    ..We highlight the characteristics of diseases like spinal muscular atrophy and familial dysautonomia that allowed partial modeling of the disease phenotype...
  77. ncbi Xerostomia in patients with triple A syndrome--a newly recognised finding
    M Dumic
    Department of Paediatrics, University Hospital Zagreb Rebro, Croatia
    Eur J Pediatr 159:885-8. 2000
    ..for the first time, a symptom which was presumed to be practically exclusive to Sjøgren syndrome and familial dysautonomia. Conclusion We recommend the investigation of salivation in all patients with triple A syndrome and ..
  78. ncbi Exclusion of p75NGFR and other candidate genes in a family with hereditary sensory neuropathy type II
    G Davar
    Molecular Genetics Unit, Massachusetts General Hospital, Charlestown 02129, USA
    Pain 67:135-9. 1996
    ..The segregation of polymorphic alleles at and around loci for p75NGFR, TRKA, TRKB, BDNF, and familial dysautonomia (another hereditary sensory neuropathy having features in common with HSN II) virtually excluded these ..
  79. ncbi Defects in tongue papillae and taste sensation indicate a problem with neurotrophic support in various neurological diseases
    John Gardiner
    School of Biological Sciences, University of Sydney, Australia
    Neuroscientist 14:240-50. 2008
    ..can be grouped into disorders with reduced papillae (Machado-Joseph disease, Stüve-Wiedemann syndrome, familial dysautonomia, dystonia musculorum, and Behçet's disease) and those with taste defects only (Alzheimer's disease, ..
  80. ncbi [RNA pathologies in neurological disorders]
    Kinji Ohno
    Division of Neurogenetics and Bioinformatics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine
    Rinsho Shinkeigaku 47:801-4. 2007
    ..Potential therapeutic modalities targeting RNA are addressed on congenital myasthenic syndromes, Duchenne muscular dystrophy, spinal muscular atrophy, and familial dysautonomia.
  81. ncbi The lung in multi-system disease
    R Dinwiddie
    Great Ormond Street Hospital for Children NHS Trust, Great Ormond Street, London WC1N 3JH, UK
    Paediatr Respir Rev 1:58-63. 2000
    ..Chronic illness such as sickle cell disease, mucopolysaccharidosis or familial dysautonomia can result in long-term recurrent respiratory problems...
  82. pmc Effects of IKAP/hELP1 deficiency on gene expression in differentiating neuroblastoma cells: implications for familial dysautonomia
    Rachel Cohen-Kupiec
    Department of Cell Research and Immunology, Tel Aviv University, Ramat Aviv, Israel
    PLoS ONE 6:e19147. 2011
    b>Familial dysautonomia (FD) is a developmental neuropathy of the sensory and autonomous nervous systems...
  83. ncbi IKAP/Elp1 involvement in cytoskeleton regulation and implication for familial dysautonomia
    David Cheishvili
    Department of Developmental Biology and Cancer Research, Institute of Medical Research Israel Canada, The Hebrew University Hadassah Medical School, Jerusalem, Israel
    Hum Mol Genet 20:1585-94. 2011
    ..in the IKAP/Elp1 protein leads to the recessive sensory autosomal congenital neuropathy which is called familial dysautonomia (FD)...
  84. ncbi Alternative splicing and disease
    Eddo Kim
    Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel
    RNA Biol 5:17-9. 2008
    ..in the splicing mechanism are known to be responsible for many diseases, including cystic fibrosis and familial dysautonomia. If mutations that cause defects in splicing are responsible for such severe deleterious phenotypic ..
  85. ncbi IKAP localizes to membrane ruffles with filamin A and regulates actin cytoskeleton organization and cell migration
    Lars Dan Johansen
    Apoptosis Department and Center for Genotoxic Stress, Institute of Cancer Biology, Danish Cancer Society, Strandboulevarden 49, DK 2100 Copenhagen, Denmark
    J Cell Sci 121:854-64. 2008
    Loss-of-function mutations in the IKBKAP gene, which encodes IKAP (ELP1), cause familial dysautonomia (FD), with defective neuronal development and maintenance. Molecular mechanisms leading to FD are poorly understood...
  86. pmc Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP
    Yei Tsung Chen
    Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    Mol Cell Biol 29:736-44. 2009
    b>Familial dysautonomia (FD), a devastating hereditary sensory and autonomic neuropathy, results from an intronic mutation in the IKBKAP gene that disrupts normal mRNA splicing and leads to tissue-specific reduction of IKBKAP protein (IKAP)..
  87. ncbi Genomic organization and chromosomal localization of the mouse IKBKAP gene
    R Coli
    Department of Biological Sciences, Laboratory for Familial Dysautonomia Research, Fordham University, Bronx, NY 10458, USA
    Gene 279:81-9. 2001
    The autosomal recessive disorder familial dysautonomia (FD) has recently been demonstrated to be caused by mutations in the IKBKAP gene, so named because an initial report suggested that it encoded an IkappaB kinase complex associated ..
  88. pmc Renal transplantation in familial dysautonomia: report of two cases and review of the literature
    Yelena Rekhtman
    Department of Medicine, Division of Nephrology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    Clin J Am Soc Nephrol 5:1676-80. 2010
    Chronic kidney disease (CKD) is an increasingly recognized complication of familial dysautonomia (FD), a neurodevelopmental disorder with protean systemic manifestations that are the result of sensory and autonomic dysfunction...
  89. ncbi The histone acetyltransferase Elp3 plays in active role in the control of synaptic bouton expansion and sleep in Drosophila
    Neetu Singh
    Department of Biology, Drexel University, Philadelphia, Pennsylvania 19104, USA
    J Neurochem 115:493-504. 2010
    ..of Elp3 has been implicated in human disorders that specifically affect neuronal function, including familial dysautonomia, a disease characterized by degeneration of the sensory and autonomic nervous system, and the motor neuron ..
  90. pmc IKAP/hELP1 down-regulation in neuroblastoma cells causes enhanced cell adhesion mediated by contactin overexpression
    Rachel Cohen-Kupiec
    Department of Cell Research and Immunology, Tel Aviv University, Tel Aviv, Israel
    Cell Adh Migr 4:541-50. 2010
    ..mutation in the IKBKAP gene encoding the IKAP/hELP1 (IKAP) protein was found to be the major cause of Familial Dysautonomia (FD)...
  91. pmc Olfactory stem cells, a new cellular model for studying molecular mechanisms underlying familial dysautonomia
    Nathalie Boone
    NICN CNRS UMR 6184, Université de la Méditerranée Faculté de Médecine Nord, IFR Jean Roche, Marseille, France
    PLoS ONE 5:e15590. 2010
    b>Familial dysautonomia (FD) is a hereditary neuropathy caused by mutations in the IKBKAP gene, the most common of which results in variable tissue-specific mRNA splicing with skipping of exon 20...
  92. ncbi Assessing autonomic dysfunction symptoms in children: a pilot study
    Xue Ming
    Department of Neurosciences and Neurology, New Jersey Medical School, Newark, NJ, USA
    J Child Neurol 26:420-7. 2011
    ..autonomic dysfunction, the Pediatric Autonomic Symptoms Scale was administered to parents of children with familial dysautonomia, autism spectrum disorders, and age-matched controls...
  93. pmc Phosphatidylserine increases IKBKAP levels in familial dysautonomia cells
    Hadas Keren
    Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel
    PLoS ONE 5:e15884. 2010
    b>Familial Dysautonomia (FD) is an autosomal recessive congenital neuropathy that results from abnormal development and progressive degeneration of the sensory and autonomic nervous system...
  94. pmc Afferent baroreflex failure in familial dysautonomia
    Lucy Norcliffe-Kaufmann
    Dysautonomia Center, New York University School of Medicine, New York, NY, USA
    Neurology 75:1904-11. 2010
    b>Familial dysautonomia (FD) is due to a genetic deficiency of the protein IKAP, which affects development of peripheral neurons. Patients with FD display complex abnormalities of the baroreflex of unknown cause.
  95. ncbi Piggyback cosmetic contact lens as an occlusion therapy in a patient with familial dysautonomia
    Langis Michaud
    É cole d optométrie Univeristé de Montré al L M, Montreal, Quebec, Canada
    Eye Contact Lens 36:367-70. 2010
    The purpose of this case report is to explore the treatment of ocular and visual complications secondary to familial dysautonomia (Riley–Day syndrome) on an 8 month-old baby...
  96. ncbi Screening for single gene genetic disease
    Thomas J Musci
    Perinatal Services, California Pacific Medical Center, Department of Obstetrics, Gynecology and Reproductive Sciences, University of California, San Francisco, CA 94118, USA
    Gynecol Obstet Invest 60:19-26. 2005
    ..Ethnic-based risk identification and testing has expanded recently with, for example, the addition of familial dysautonomia for patients of Askhenazi ancestry...
  97. pmc The Caenorhabditis elegans Elongator complex regulates neuronal alpha-tubulin acetylation
    Jachen A Solinger
    C elegans Genetics, IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy
    PLoS Genet 6:e1000820. 2010
    ..have previously been linked to human neurodegenerative diseases, namely Amyotrophic Lateral Sclerosis and Familial Dysautonomia respectively highlights the importance of this work and offers new insights to understand their etiology.
  98. ncbi Elongator complex: how many roles does it play?
    Jesper Q Svejstrup
    Clare Hall Laboratories, Cancer Research UK London Research Institute, Blanche Lane, South Mimms, EN6 3LD, UK
    Curr Opin Cell Biol 19:331-6. 2007
    ..One of the subunits of Elongator is encoded by a gene that is mutated in patients suffering from the severe neurodevelopmental disorder familial dysautonomia.
  99. ncbi Episodic somnolence in an infant with Riley-Day syndrome
    Erasmo B Casella
    Pediatric Neurology Unit, University of Sao Paulo, Sao Paulo, Brazil
    Pediatr Neurol 32:273-4. 2005
    b>Familial dysautonomia is an autosomal recessive congenital neuropathy that occurs almost exclusively in the Ashkenazi Jewish population and has rarely been diagnosed in the neonatal period in unaffected families...
  100. pmc Familial dysautonomia model reveals Ikbkap deletion causes apoptosis of Pax3+ progenitors and peripheral neurons
    Lynn George
    Department of Cell Biology and Neuroscience, Montana State University, Bozeman, MT 59717
    Proc Natl Acad Sci U S A 110:18698-703. 2013
    b>Familial dysautonomia (FD) is a devastating developmental and progressive peripheral neuropathy caused by a mutation in the gene inhibitor of kappa B kinase complex-associated protein (IKBKAP)...
  101. ncbi P-wave dispersion in familial dysautonomia
    Udi Nussinovitch
    Department of Internal Medicine B, Sheba Medical Center, Tel Hashomer, Israel
    Isr Med Assoc J 12:729-31. 2010
    b>Familial dysautonomia is a hereditary disease characterized by dysfunction of the sensory and autonomic nervous systems...

Research Grants19

  1. Autonomic Rare Diseases Clinical Research Consortium
    DAVID HERLIE ROBERTSON; Fiscal Year: 2013
    ..therapeutic studies, not described in this proposal, aimed at other rare autonomic disorders such as (1) familial dysautonomia (2) dopamine beta-hydroxylase deficiency, (3) baroreflex failure, and (4) norepinephrine transporter ..
  2. Carbidopa for the treatment of nausea and vomiting in familial dysautonomiaIND #
    Horacio Kaufmann; Fiscal Year: 2010
    ..b>Familial dysautonomia is a rare autosomal recessive disease in which the growth and development of selective neuronal ..
  3. CSHL RNA &Oligonucleotide Therapeutics Conference
    David J Stewart; Fiscal Year: 2013
    ..muscular dystrophy, spinal muscular atrophy, amyotrophic lateral sclerosis, frontotemporal dementia, familial dysautonomia and myotonic dystrophy...
  4. DRG Progenitor: Role of extrinsic and intrinsic cues
    Frances Lefcort; Fiscal Year: 2013
    ..systems go awry, sensory and/or autonomic neuropathies result including the recessive genetic disease, Familial Dysautonomia (FD), in which neither the sensory nor the autonomic nervous systems develop correctly...
  5. Characterization of autonomic dysfunction in Rett syndrome &other MECP2 disorder
    Jeffrey L Neul; Fiscal Year: 2013
    ..insight into other clinical disorders that have alterations in respiration, cardiac function, or autonomic control, such as sudden infant death, congenital hypoventilation syndrome, familial dysautonomia, and multiple system atrophy.
  6. IKBKAP function in SNS development
    Warren G Tourtellotte; Fiscal Year: 2011
    ..b>Familial Dysautonomia (FD, Riley Day Syndrome, HSAN3) is a devastating genetic autosomal recessive disease involving the ..
  7. MECHANISM OF FAMILIAL DYSAUTONOMIA
    Susan A Slaugenhaupt; Fiscal Year: 2013
    ..Our studies have focused on familial dysautonomia (FD), a hereditary sensory and autonomic neuropathy that is caused by a splice mutation in the IKBKAP gene...
  8. In vitro and in vivo functional analysis of Ikbkap in Familial Dysautonomia
    MARISA ZOE TATIANA JACKSON; Fiscal Year: 2013
    ..b>Familial Dysautonomia (FD;Riley-Day Syndrome;hereditary sensory and autonomic neuropathy, type 3;HSAN3;OMIM 223900) is one of ..
  9. Development of kinetin as a treatment for familial dysautonomia
    Susan Slaugenhaupt; Fiscal Year: 2009
    b>Familial dysautonomia (FD) is a hereditary sensory and autonomic neuropathy that is caused by a splice mutation in the IKBKAP gene...
  10. Mentoring and Research in Mouse Pathobiology
    Warren G Tourtellotte; Fiscal Year: 2013
    ..nervous system development and dysfunction and (3) the mechanisms of IKBKAP gene function in human familial dysautonomia. Dr...
  11. Optimization of compounds to improve mRNA splicing in familial dysautonomia
    Susan A Slaugenhaupt; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Familial dysautonomia (FD) is a hereditary sensory and autonomic neuropathy that is caused by a splice mutation in the IKBKAP gene...
  12. REGULATION OF SODIUM CHANNEL EXPRESSION
    ROBERT MAUE; Fiscal Year: 2000
    ..These factors have also been implicated in a spectrum of neurological disorders, including familial dysautonomia, diabetic neuropathy, amyotrophic lateral sclerosis, epilepsy, Parkinson's disease, Huntington's disease, ..
  13. Molecular analysis of Elp complex function in health and disease
    Ruth N Collins; Fiscal Year: 2012
    ..Mutations in the human homolog of Elp1p, the IKAP gene, are a cause of the neurological disorder Familial Dysautonomia. The long-term goal of the research is to elucidate the mechanism of the FD disease syndrome protein ..
  14. DEVELOPMENTAL INFLUENCES ON NEURAL CREST CELLS
    GERALD MAXWELL; Fiscal Year: 1999
    ..These include neurofibromatosis 1, familial dysautonomia, and several craniofacial anomalies...
  15. AUTONOMIC DEVELOPMENT IN SIDS AND DYSAUTONOMIA
    John Pearson; Fiscal Year: 1980
    ..in parallel with study of neuronal and axonal changes in the sudden infant death syndrome (SIDS) and familial dysautonomia (FD)...
  16. NEURAL PLASTICITY IN TASTE
    Bruce Oakley; Fiscal Year: 2001
    ..neurons has promise in the assessment and treatment of neurodegeneratiave disorders such as Alzheimer's disease, ALS, and Parkinson's disease, as well as in familial dysautonomia, a genetic disorder in which taste buds fail to develop.
  17. Generation of a mouse model for Familial Dysautonomia.
    Ioannis Dragatsis; Fiscal Year: 2006
    unreadable] DESCRIPTION (provided by applicant): Familial Dysautonomia (FD) is an autosomal recessive disorder that affects 1/3,600 live births in the Ashkenazi Jewish population...
  18. NERVE-EPITHELIUM INTERACTION IN OROFACIAL DEVELOPMENT
    Charlotte Mistretta; Fiscal Year: 1980
    ..in the oral cavity during development: tissue healing and epithelial graft; underlying pathology of familial dysautonomia; and, taste receptor formation...
  19. Elp3p function and the role of acetylation in secretion
    Ian Berke; Fiscal Year: 2007
    ..Mutations of a human homolog of an Elp complex protein underlie the human neurodegenerative disease, Familial Dysautonomia. The biological process this mutation affects is not understood and no animal models exist to study it...