Ruth H Walker

Summary

Affiliation: Mount Sinai School of Medicine
Country: USA

Publications

  1. doi request reprint Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing
    Ruth H Walker
    Department of Neurology, James J Peters Veterans Affairs Medical Center, Bronx, New York 10468, USA
    Mov Disord 27:539-43. 2012
  2. pmc Effects of subthalamic nucleus lesions and stimulation upon corticostriatal afferents in the 6-hydroxydopamine-lesioned rat
    Ruth H Walker
    Department of Neurology, James J Peters Veterans Affairs Medical Center, Bronx, New York, United States of America
    PLoS ONE 7:e32919. 2012
  3. pmc Neuroacanthocytosis syndromes
    Hans H Jung
    Department of Neurology, University Hospital Zurich, Zurich, Switzerland
    Orphanet J Rare Dis 6:68. 2011
  4. ncbi request reprint Developments in the molecular biology of DYT1 dystonia
    Ruth H Walker
    Department of Neurology, Veterans Affairs Medical Center, Bronx, and Mount Sinai School of Medicine, New York, New York, USA
    Mov Disord 18:1102-7. 2003
  5. doi request reprint Effects of zona incerta lesions on striatal neurochemistry and behavioral asymmetry in 6-hydroxydopamine-lesioned rats
    Ruth H Walker
    Department of Neurology, James J Peters Veterans Affairs Medical Center, Bronx, New York 10468, USA
    J Neurosci Res 88:2964-75. 2010
  6. doi request reprint Effects of subthalamic nucleus lesions and stimulation upon glutamate levels in the dopamine-depleted rat striatum
    Ruth H Walker
    Department of Neurology, James J Peters Veterans Affairs Medical Center, Bronx, New York 10468, USA
    Neuroreport 20:770-5. 2009
  7. doi request reprint Subthalamic nucleus stimulation and lesioning have distinct state-dependent effects upon striatal dopamine metabolism
    Ruth H Walker
    Department of Neurology, James J Peters Veterans Affairs Medical Center, Bronx, New York 10468, USA
    Synapse 63:136-46. 2009
  8. ncbi request reprint Developments in neuroacanthocytosis: expanding the spectrum of choreatic syndromes
    Ruth H Walker
    Department of Neurology, Veterans Affairs Medical Center, Bronx, and Mount Sinai School of Medicine, New York, NY 10468, USA
    Mov Disord 21:1794-805. 2006
  9. ncbi request reprint Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome
    Ruth H Walker
    Departments of Neurology, Veterans Affairs Medical Center, New York, New York 10468, USA
    Mov Disord 22:244-8. 2007
  10. ncbi request reprint Neurologic phenotypes associated with acanthocytosis
    R H Walker
    Department of Neurology, James J Peters Veterans Affairs Medical Center, Bronx, NY 10468, USA
    Neurology 68:92-8. 2007

Collaborators

Detail Information

Publications41

  1. doi request reprint Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing
    Ruth H Walker
    Department of Neurology, James J Peters Veterans Affairs Medical Center, Bronx, New York 10468, USA
    Mov Disord 27:539-43. 2012
    ..These studies may provide a better understanding of the function of the associated proteins and provide insight into the pathogenesis of these disorders...
  2. pmc Effects of subthalamic nucleus lesions and stimulation upon corticostriatal afferents in the 6-hydroxydopamine-lesioned rat
    Ruth H Walker
    Department of Neurology, James J Peters Veterans Affairs Medical Center, Bronx, New York, United States of America
    PLoS ONE 7:e32919. 2012
    ..STN interventions may achieve at least part of their therapeutic effect in PD by normalizing the location of corticostriatal glutamatergic terminals and by altering striatal glutamatergic neurotransmission...
  3. pmc Neuroacanthocytosis syndromes
    Hans H Jung
    Department of Neurology, University Hospital Zurich, Zurich, Switzerland
    Orphanet J Rare Dis 6:68. 2011
    ..Other symptoms including psychiatric manifestations should be managed in a symptom-oriented manner. NA syndromes have a relentlessly progressive course usually over two to three decades...
  4. ncbi request reprint Developments in the molecular biology of DYT1 dystonia
    Ruth H Walker
    Department of Neurology, Veterans Affairs Medical Center, Bronx, and Mount Sinai School of Medicine, New York, New York, USA
    Mov Disord 18:1102-7. 2003
    ..A functional interference with neuronal signal processing induced by mutation of torsinA is consistent with current hypotheses regarding impairment of the center-surround mechanism in the striatum...
  5. doi request reprint Effects of zona incerta lesions on striatal neurochemistry and behavioral asymmetry in 6-hydroxydopamine-lesioned rats
    Ruth H Walker
    Department of Neurology, James J Peters Veterans Affairs Medical Center, Bronx, New York 10468, USA
    J Neurosci Res 88:2964-75. 2010
    ..These data indicate that lesions of the ZI can affect striatal neurochemistry and motor behavioral asymmetry and suggest potential mechanisms by which ZI lesions may improve symptoms in PD...
  6. doi request reprint Effects of subthalamic nucleus lesions and stimulation upon glutamate levels in the dopamine-depleted rat striatum
    Ruth H Walker
    Department of Neurology, James J Peters Veterans Affairs Medical Center, Bronx, New York 10468, USA
    Neuroreport 20:770-5. 2009
    ..The effects of lesions differed depending upon the presence of dopamine. These results suggest that short-term electrical stimulation does not result in a direct inhibitory effect upon the subthalamic nucleus...
  7. doi request reprint Subthalamic nucleus stimulation and lesioning have distinct state-dependent effects upon striatal dopamine metabolism
    Ruth H Walker
    Department of Neurology, James J Peters Veterans Affairs Medical Center, Bronx, New York 10468, USA
    Synapse 63:136-46. 2009
    ..This further decrease in dopamine turnover with STN stimulation would serve to maintain dopamine levels in the dopamine-depleted striatum, and may account for the therapeutic benefit of DBS in Parkinson's disease...
  8. ncbi request reprint Developments in neuroacanthocytosis: expanding the spectrum of choreatic syndromes
    Ruth H Walker
    Department of Neurology, Veterans Affairs Medical Center, Bronx, and Mount Sinai School of Medicine, New York, NY 10468, USA
    Mov Disord 21:1794-805. 2006
    ..In this article, recent developments in the field are presented...
  9. ncbi request reprint Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome
    Ruth H Walker
    Departments of Neurology, Veterans Affairs Medical Center, New York, New York 10468, USA
    Mov Disord 22:244-8. 2007
    ..This phenotypic variation, despite shared mutations, suggests the action of disease-modifying factors that may explain some of the difficulties with genotype-phenotype correlation in McLeod syndrome...
  10. ncbi request reprint Neurologic phenotypes associated with acanthocytosis
    R H Walker
    Department of Neurology, James J Peters Veterans Affairs Medical Center, Bronx, NY 10468, USA
    Neurology 68:92-8. 2007
    ..As in other neurodegenerative conditions, animal models are a promising strategy for the development of such therapies...
  11. ncbi request reprint Phenotypic features of Huntington's disease-like 2
    Ruth H Walker
    Department of Neurology, Veterans Affairs Medical Center, Bronx Mount Sinai School of Medicine, New York, New York 10029, USA
    Mov Disord 18:1527-30. 2003
    ..It resembles classic Huntington's disease in clinical phenotype, inheritance pattern, and neuropathological features. We highlight the clinical features of this disorder, including chorea, dystonia, parkinsonism, and cognitive deficits...
  12. ncbi request reprint Huntington's disease--like 2 can present as chorea-acanthocytosis
    R H Walker
    Department of Neurology, Veterans Affairs Medical Center, Bronx, NY, USA
    Neurology 61:1002-4. 2003
    ..One of six previously identified patients with HDL2 had acanthocytosis on peripheral blood smear, suggesting that HDL2 should be considered in the differential of chorea-acanthocytosis...
  13. ncbi request reprint McLeod phenotype without the McLeod syndrome
    Ruth H Walker
    Department of Neurology, James J Peters Veterans Affairs Medical Center, Bronx, NY 10468, USA
    Transfusion 47:299-305. 2007
    ..Here the clinical details of two additional cases are presented, of which the genetic details have previously been published...
  14. doi request reprint Differential diagnosis of chorea
    Ruth H Walker
    Department of Neurology, James J Peters Veterans Affairs Medical Center, Bronx, NY 10468, USA
    Curr Neurol Neurosci Rep 11:385-95. 2011
    ..Although most therapies at present are supportive, correct diagnosis is essential for appropriate genetic counseling, and ultimately, for future molecular therapies...
  15. pmc Dysregulation of striatal dopamine release in a mouse model of dystonia
    Li Bao
    Department of Physiology and Neuroscience, NYU School of Medicine, New York, NY 10016, USA
    J Neurochem 114:1781-91. 2010
    ..Together, these data implicate compromised DA release regulation, possibly from cholinergic dysfunction, in the motor symptoms of this dystonia model...
  16. pmc Insights into extensive deletions around the XK locus associated with McLeod phenotype and characterization of two novel cases
    Jianbin Peng
    New York Blood Center, New York, NY 10021, USA
    Gene 392:142-50. 2007
    ..The non-synonymous to synonymous nucleotide substitution rate ratio (omega=dN/dS) in these genes was examined. CYBB and RPGR show evidence of positive selection, whereas DMD, XK and OTC are subject to selective constraint...
  17. ncbi request reprint TorsinA immunoreactivity in inclusion bodies in trinucleotide repeat diseases
    Ruth H Walker
    Department of Neurology, Veterans Affairs Medical Center, Bronx, New York, NY 10029, USA
    Mov Disord 18:1041-4. 2003
    ....
  18. doi request reprint Chorea-acanthocytosis genotype in the original critchley kentucky neuroacanthocytosis kindred
    Antonio Velayos-Baeza
    The Wellcome Trust Centre for Human Genetics, Oxford, England
    Arch Neurol 68:1330-3. 2011
    ..The eponym Levine-Critchley syndrome, subsequently termed neuroacanthocytosis, has been applied to symptomatically similar, but genetically distinct, disorders, resulting in clinical and diagnostic confusion...
  19. ncbi request reprint Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions
    R H Walker
    Department of Neurology, Veterans Affairs Medical Center, Bronx, NY, USA
    Neurology 58:1031-7. 2002
    ..The characteristic acanthocytic appearance of red blood cells is attributed to abnormalities of a membrane protein, band 3, although the relationship between this and the neurodegenerative process has yet to be determined...
  20. pmc Two McLeod patients with novel mutations in XK
    Patrycja M Dubielecka
    New York Blood Center, Lindsley F Kimball Research Institute, Cell Signaling Laboratory, 310E 67th street, New York, NY 10065, USA
    J Neurol Sci 305:160-4. 2011
    ..Patient 2 had a single base substitution in the 3' splice sequence of intron 2 (IVS2-2a>g). In both cases mutations resulted in the absence of XK protein...
  21. ncbi request reprint Overexpression of torsinA in PC12 cells protects against toxicity
    P Shashidharan
    Department of Neurology, Mount Sinai School of Medicine, New York 10029, USA
    J Neurochem 88:1019-25. 2004
    ..Overexpression of mutant torsinA failed to protect cells against trophic withdrawal. These results suggest that torsinA may play a protective role in neurons against a variety of cellular insults...
  22. ncbi request reprint Schizophrenia in a patient with spinocerebellar ataxia 2: coincidence of two disorders or a neurodegenerative disease presenting with psychosis?
    Matthew Rottnek
    Department of Neurology, James J Peters Veterans Affairs Medical Center, Bronx, NY 10468, USA
    Am J Psychiatry 165:964-7. 2008
  23. ncbi request reprint Phenotypic features of myoclonus-dystonia in three kindreds
    D O Doheny
    Department of Neurology, Mount Sinai School of Medicine, Annenberg 14 51A, Box 1052, New York, NY 10029, USA
    Neurology 59:1187-96. 2002
    ..Autosomal dominant alcohol-responsive M-D is associated with mutations in the epsilon-sarcoglycan gene (SGCE) (six families) and with a missense change in the D2 dopamine receptor (DRD2)gene (one family)...
  24. ncbi request reprint Transgenic mouse model of early-onset DYT1 dystonia
    P Shashidharan
    Department of Neurology, Mount Sinai School of Medicine, One Gustave L Levy Place, NY 10029, USA
    Hum Mol Genet 14:125-33. 2005
    ..This transgenic mouse model demonstrates behavioral and pathologic features similar to patients with early-onset dystonia and may help to better understand the pathophysiology of this disorder and to develop more effective therapies...
  25. ncbi request reprint Immunohistochemical localization and distribution of torsinA in normal human and rat brain
    P Shashidharan
    Department of Neurology, Box 1137, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, NY, USA
    Brain Res 853:197-206. 2000
    ..An understanding of the role of torsinA in cellular function and the impact of the mutation (deletion of a glutamic acid at residue 303) is likely to provide insights into the etiopathogenesis of primary dystonia...
  26. pmc The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures
    Catharine E Krebs
    Department of Neurology, Icahn School of Medicine at Mount Sinai, New York City, New York, USA
    Hum Mutat 34:1200-7. 2013
    ..Our finding not only opens new avenues of investigation in the synaptic dysfunction mechanisms associated with Parkinsonism, but also suggests phosphoinositide metabolism as a novel therapeutic target for Parkinsonism. ..
  27. doi request reprint Neuroacanthocytosis
    Ruth H Walker
    Department of Neurology, James J Peters Veterans Affairs Medical Center, Bronx and Department of Neurology, Mount Sinai School of Medicine, New York, NY, USA
    Handb Clin Neurol 100:141-51. 2011
    ..The connection between the erythrocyte membrane abnormality, which results in the characteristic "thorny" protrusions, the vulnerability of the basal ganglia, and the respective genetic mutations, is obscure...
  28. ncbi request reprint Distribution and immunohistochemical characterization of torsinA immunoreactivity in rat brain
    R H Walker
    Department of Neurology 127, Bronx Veterans Affairs Medical Center, 130 W Kingsbridge Road, Bronx, NY 10468, USA
    Brain Res 900:348-54. 2001
    ..The distribution of torsinA in rat brain as demonstrated by immunohistochemistry contrasts with the results of in situ hybridization studies of torsinA mRNA in human postmortem brain in which a more limited distribution was found...
  29. ncbi request reprint Evaluation of acupuncture in the treatment of Parkinson's disease: a double-blind pilot study
    Adrian Cristian
    Department of Rehabilitation Medicine, Veterans Affairs Medical Center, Bronx, New York 10468, USA
    Mov Disord 20:1185-8. 2005
    ..In the patients who received acupuncture, nonsignificant trends toward improvement were noted in the Activities of Daily Living score of the PDQ-39, the PDQ-39 Summary Index(c) 2005 Movement Disorder Society...
  30. ncbi request reprint A family with a tau P301L mutation presenting with parkinsonism
    Ruth H Walker
    Department of Neurology, Bronx VA Medical Center, NY 10468, USA
    Parkinsonism Relat Disord 9:121-3. 2002
    ..The haplotype background may influence the disease phenotype since in many previous Caucasian families with the P301L mutation, the haplotype background has been H2...
  31. ncbi request reprint Levodopa is toxic to dopamine neurons in an in vitro but not an in vivo model of oxidative stress
    Catherine Mytilineou
    Department of Neurology, Mount Sinai School of Medicine, New York, New York 10029, USA
    J Pharmacol Exp Ther 304:792-800. 2003
    ..This study provides further evidence to support the notion that although levodopa can be toxic to dopamine neurons in vitro, it is not likely to be toxic to dopamine neurons in vivo and specifically in conditions such as PD...
  32. pmc Astrocyte-neuron lactate transport is required for long-term memory formation
    Akinobu Suzuki
    Department of Neuroscience, Mount Sinai School of Medicine, New York, New York 10029, USA
    Cell 144:810-23. 2011
    ..We conclude that astrocyte-neuron lactate transport is required for long-term memory formation...
  33. ncbi request reprint Obsessive-compulsive disorders due to neuroacanthocytosis treated with citalopram
    R H Walker
    1Department of Neurology, James J Peters Veterans Affairs Medical Center, Bronx, and Mount Sinai School of Medicine, New York, NY, USA
    Pharmacopsychiatry 40:132; author reply 132-3. 2007
  34. ncbi request reprint TorsinA immunoreactivity in brains of patients with DYT1 and non-DYT1 dystonia
    R H Walker
    Department of Neurology Dr Walker, Veterans Affairs Medical Center, Bronx
    Neurology 58:120-4. 2002
    ..These findings contrast with results of recent cell culture studies of torsinA...
  35. ncbi request reprint Severe generalized dystonia due to primary putaminal degeneration: case report and review of the literature
    Ruth H Walker
    Department of Neurology, Bronx Veterans Affairs Medical Center and Mount Sinai School of Medicine, New York, New York, USA
    Mov Disord 17:576-84. 2002
    ..The substantia nigra pars compacta contained a normal number of neurons but decreased tyrosine hydroxylase immunoreactivity. There were no histopathological markers of other metabolic or degenerative diseases...
  36. ncbi request reprint Huntington's Disease-like 2 (HDL2) in North America and Japan
    Russell L Margolis
    Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Ann Neurol 56:670-4. 2004
    ..0098). The results further support the evidence that the repeat expansion at the chromosome 16q24.3 locus is the direct cause of HDL2 and provide preliminary guidelines for the genetic testing of patients with an HD-like phenotype...
  37. ncbi request reprint Neuroacanthocytosis
    Adrian Danek
    Neurologische Klinik und Poliklinik, Ludwig Maximilians Universitat Munchen, Germany
    Curr Opin Neurol 18:386-92. 2005
    ..This review summarizes the current state of knowledge regarding this group of diseases in order to facilitate clinical recognition, accurate diagnosis and appropriate management...
  38. ncbi request reprint Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations
    Christine Klein
    Department of Neurology, Medical University of Lubeck, Lubeck, Germany
    Ann Neurol 52:675-9. 2002
    ..In both of the latter families, we also found a mutation of SGCE. The molecular mechanisms through which the detected mutations may contribute to myoclonus-dystonia remain to be determined...
  39. ncbi request reprint The Huntington's disease-like syndromes: what to consider in patients with a negative Huntington's disease gene test
    Susanne A Schneider
    Sobell Department of Motor Neuroscience and Movement Disorders at the Institute of Neurology, University College London, Queen Square, London, UK
    Nat Clin Pract Neurol 3:517-25. 2007
    ....
  40. ncbi request reprint Neuroacanthocytosis: new developments in a neglected group of dementing disorders
    Adrian Danek
    Neurologische Klinik und Poliklinik, Ludwig Maximilians Universit├Ąt Marchioninistr 15 D 81366 Munich, Germany
    J Neurol Sci 229:171-86. 2005
    ....
  41. ncbi request reprint Self-mutilation in chorea-acanthocytosis: Manifestation of movement disorder or psychopathology?
    Ruth H Walker
    Mov Disord 21:2268-9. 2006