H A Jinnah

Summary

Affiliation: Johns Hopkins University
Country: USA

Publications

  1. pmc Calcium channel activation and self-biting in mice
    H A Jinnah
    Department of Neurology, Johns Hopkins Hospital, Baltimore, MD 21287, USA
    Proc Natl Acad Sci U S A 96:15228-32. 1999
  2. ncbi request reprint The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases
    H A Jinnah
    Department of Neurology, Johns Hopkins Medical Institutions, Baltimore, MD 21287, USA
    Mutat Res 463:309-26. 2000
  3. pmc The role of dopamine receptors in the neurobehavioral syndrome provoked by activation of L-type calcium channels in rodents
    Suhail Kasim
    Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA
    Dev Neurosci 28:505-17. 2006
  4. pmc The basal ganglia and cerebellum interact in the expression of dystonic movement
    Vladimir K Neychev
    Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA
    Brain 131:2499-509. 2008
  5. ncbi request reprint Expression of c-FOS in the brain after activation of L-type calcium channels
    H A Jinnah
    Department of Neurology, Johns Hopkins Hospital, Baltimore, MD 21287, USA
    Dev Neurosci 25:403-11. 2003
  6. ncbi request reprint Distinct behavioral and neuropathological abnormalities in transgenic mouse models of HD and DRPLA
    G Schilling
    Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Neurobiol Dis 8:405-18. 2001
  7. ncbi request reprint Paroxysmal dyskinesias in the lethargic mouse mutant
    Zubair Khan
    Department of Neurology, Johns Hopkins Hospital, Baltimore, Maryland 21287, USA
    J Neurosci 22:8193-200. 2002
  8. pmc Paroxysmal dyskinesias in mice
    Thomas L Shirley
    Department of Neurology, Johns Hopkins University, Baltimore, Maryland, USA
    Mov Disord 23:259-64. 2008
  9. pmc Basal ganglia dopamine loss due to defect in purine recycling
    Kiyoshi Egami
    Department of Neurology, Meyer Room 6 181, 600 North Wolfe Street, Johns Hopkins Hospital, Baltimore, MD 21287, USA
    Neurobiol Dis 26:396-407. 2007
  10. ncbi request reprint Neuroanatomical substrates for paroxysmal dyskinesia in lethargic mice
    Rajiv Devanagondi
    Department of Neurology, Meyer Room 6 181, 600 North Wolfe Street, Johns Hopkins Hospital, Baltimore, MD 21287, and University of Tennessee, Memphis 38163, USA
    Neurobiol Dis 27:249-57. 2007

Collaborators

Detail Information

Publications45

  1. pmc Calcium channel activation and self-biting in mice
    H A Jinnah
    Department of Neurology, Johns Hopkins Hospital, Baltimore, MD 21287, USA
    Proc Natl Acad Sci U S A 96:15228-32. 1999
    ..This phenomenon provides a model for studying the neurobiology of this unusual behavior...
  2. ncbi request reprint The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases
    H A Jinnah
    Department of Neurology, Johns Hopkins Medical Institutions, Baltimore, MD 21287, USA
    Mutat Res 463:309-26. 2000
    ....
  3. pmc The role of dopamine receptors in the neurobehavioral syndrome provoked by activation of L-type calcium channels in rodents
    Suhail Kasim
    Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA
    Dev Neurosci 28:505-17. 2006
    ..Instead, the behaviors appear to result from a postsynaptic activation of the drug, which does not require but can be modified by D(3) or D(1/5) receptors...
  4. pmc The basal ganglia and cerebellum interact in the expression of dystonic movement
    Vladimir K Neychev
    Department of Neurology, Johns Hopkins University, Baltimore, MD 21287, USA
    Brain 131:2499-509. 2008
    ..These results support the hypothesis that dystonia may result from disruption of a motor network involving both the basal ganglia and cerebellum, rather than isolated dysfunction of only one motor system...
  5. ncbi request reprint Expression of c-FOS in the brain after activation of L-type calcium channels
    H A Jinnah
    Department of Neurology, Johns Hopkins Hospital, Baltimore, MD 21287, USA
    Dev Neurosci 25:403-11. 2003
    ..These results demonstrate a very heterogeneous influence of L-type calcium channel activation in different brain regions, despite the nearly universal expression of these channels implied by more classical anatomical methods...
  6. ncbi request reprint Distinct behavioral and neuropathological abnormalities in transgenic mouse models of HD and DRPLA
    G Schilling
    Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Neurobiol Dis 8:405-18. 2001
    ..We suggest that the distinct behavioral and neuropathological phenotypes in these mice reflect differences in the way these mutant proteins perturb neuronal function...
  7. ncbi request reprint Paroxysmal dyskinesias in the lethargic mouse mutant
    Zubair Khan
    Department of Neurology, Johns Hopkins Hospital, Baltimore, Maryland 21287, USA
    J Neurosci 22:8193-200. 2002
    ..The lethargic mutants provide additional evidence that calcium channelopathies can produce paroxysmal dyskinesias and provide a novel model for studying this unusual movement disorder...
  8. pmc Paroxysmal dyskinesias in mice
    Thomas L Shirley
    Department of Neurology, Johns Hopkins University, Baltimore, Maryland, USA
    Mov Disord 23:259-64. 2008
    ..These mice provide three independent models of paroxysmal dyskinesia and support for prior proposals that channelopathies may underlie the human disorders...
  9. pmc Basal ganglia dopamine loss due to defect in purine recycling
    Kiyoshi Egami
    Department of Neurology, Meyer Room 6 181, 600 North Wolfe Street, Johns Hopkins Hospital, Baltimore, MD 21287, USA
    Neurobiol Dis 26:396-407. 2007
    ..These results suggest that dopamine loss in HPRT deficiency has a biochemical rather than anatomical basis and imply that purine recycling to be a biochemical process of particular importance to the function of dopaminergic neurons...
  10. ncbi request reprint Neuroanatomical substrates for paroxysmal dyskinesia in lethargic mice
    Rajiv Devanagondi
    Department of Neurology, Meyer Room 6 181, 600 North Wolfe Street, Johns Hopkins Hospital, Baltimore, MD 21287, and University of Tennessee, Memphis 38163, USA
    Neurobiol Dis 27:249-57. 2007
    ..Surgical removal of the cerebellum worsened ataxia but eliminated paroxysmal dyskinesias. These studies support the hypothesis that abnormal cerebellar output contributes to paroxysmal dyskinesias...
  11. ncbi request reprint The spectrum of mutations causing HPRT deficiency: an update
    H A Jinnah
    Department of Neurology, Johns Hopkins Hospital, Baltimore, Maryland 21287, USA
    Nucleosides Nucleotides Nucleic Acids 23:1153-60. 2004
    ..The reasons for some apparent exceptions to this proposal are addressed...
  12. ncbi request reprint A Golgi study of neuronal architecture in a genetic mouse model for Lesch-Nyhan disease
    Ivan Mikolaenko
    Department of Neurology, Meyer Room 6 181, Johns Hopkins Hospital, Baltimore, MD 21287, USA
    Neurobiol Dis 20:479-90. 2005
    ..These findings demonstrate that HPRT deficiency is associated with changes in neuronal architecture in the HPRT- mice. Similar abnormalities in the LND brain could underlie some of the clinical manifestations...
  13. pmc Functional analysis of dopaminergic systems in a DYT1 knock-in mouse model of dystonia
    Chang Hyun Song
    Department of Neurology, Emory University, Atlanta, GA 30322, USA
    Neurobiol Dis 48:66-78. 2012
    ..These results demonstrate that this DYT1(ΔE) knock-in mouse model of dystonia harbors neurochemical and structural changes of the dopamine pathways, as well as motor abnormalities...
  14. ncbi request reprint Self-biting induced by activation of L-type calcium channels in mice: dopaminergic influences
    Suhail Kasim
    Department of Neurology, Johns Hopkins Hospital, Baltimore, MD 21287, USA
    Dev Neurosci 25:20-5. 2003
    ..These results suggest that dopaminergic systems may play a role in the ability of +/-Bay K 8644 to provoke self-biting and self-injurious behavior...
  15. ncbi request reprint Oxidative stress and dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease
    Jasper E Visser
    Department of Neurology, Meyer 6 181, Johns Hopkins Hospital, Baltimore, MD 21287, USA
    Brain Res Dev Brain Res 133:127-39. 2002
    ..Overall, these data provide evidence for increased oxidative stress, but the failure to protect the knockout mice by over-expressing SOD1 argues that oxidative stress is not the sole process responsible for the loss of striatal dopamine...
  16. pmc Subtle microstructural changes of the striatum in a DYT1 knock-in mouse model of dystonia
    Chang Hyun Song
    Department of Neurology, Emory University, Atlanta, GA 30322, USA
    Neurobiol Dis 54:362-71. 2013
    ..These results suggest specific anatomical substrates for altered signaling in the striatum and potential correlates of the abnormalities implied by human imaging studies of DYT1 dystonia...
  17. ncbi request reprint A human neuronal tissue culture model for Lesch-Nyhan disease
    Thomas L Shirley
    Department of Neurology, Johns Hopkins University, Baltimore, Maryland, USA, and Department of Biology, Necker Enfants Malades Hospital, Paris, France
    J Neurochem 101:841-53. 2007
    ..These cells combine the analytical power of multiple lines and a human, neuronal origin to provide an important tool to investigate the pathophysiology of HPRT deficiency...
  18. pmc Delineation of the motor disorder of Lesch-Nyhan disease
    H A Jinnah
    Department of Neurology, University of Maryland School of Medicine, Baltimore, MD, USA
    Brain 129:1201-17. 2006
    ..Explanations for the differing observations available in the literature are provided, along with a summary of how the motor disorder of LND relates to current understanding of its pathophysiology involving the basal ganglia...
  19. pmc Consequences of impaired purine recycling in dopaminergic neurons
    J C Lewers
    Department of Neurology, Meyer Room 6 181, 600 North Wolfe Street, Johns Hopkins University, Baltimore, MD 21287, USA
    Neuroscience 152:761-72. 2008
    ....
  20. ncbi request reprint Rodent models for dystonia research: characteristics, evaluation, and utility
    H A Jinnah
    Department of Neurology, Johns Hopkins University, Baltimore, Maryland 21287, USA
    Mov Disord 20:283-92. 2005
    ..This review summarizes the main outcomes of this conference. 2005 Movement Disorder Society...
  21. ncbi request reprint Abnormal motor behavior and vestibular dysfunction in the stargazer mouse mutant
    Z Khan
    Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Neuroscience 127:785-96. 2004
    ....
  22. ncbi request reprint Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiency
    D J Schretlen
    Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    J Int Neuropsychol Soc 7:805-12. 2001
    ..The variants produced scores that were intermediate between those of patients with LND and normal participants on nearly every cognitive measure. We discuss these findings in terms of what is known about the neuropathology of LND...
  23. ncbi request reprint Pharmacologic thresholds for self-injurious behavior in a genetic mouse model of Lesch-Nyhan disease
    Suhail Kasim
    Department of Neurology, Johns Hopkins Hospital, Meyer 6 181, Baltimore, MD 21287, USA
    Pharmacol Biochem Behav 73:583-92. 2002
    ..Finally, there was no evidence that the HPRT-deficient mice were more susceptible to SIB when it occurred (clonidine, Bay K 8644)...
  24. pmc Phenylketonuria presenting in adulthood as progressive spastic paraparesis with dementia
    S Kasim
    Meyer 6-181, Department of Neurology, Johns Hopkins Hospital, Baltimore, MD 21287, USA
    J Neurol Neurosurg Psychiatry 71:795-7. 2001
    ..Although untreated phenylketonuria is typically associated with severe neurological dysfunction beginning in early childhood, this case shows that disability may be delayed until adulthood...
  25. pmc Treatment strategies for dystonia
    Leslie J Cloud
    Emory University, Department of Neurology, 1841 Clifton Road NE, Room 329, Atlanta, GA 30029, USA
    Expert Opin Pharmacother 11:5-15. 2010
    ..These options include physical and occupational therapy, oral medications, intramuscular injection of botulinum toxins, and neurosurgical interventions...
  26. pmc Environmental neurotoxin-induced progressive model of parkinsonism in rats
    Wei Bin Shen
    Department of Pharmacology and Experimental Therapeutics, University of Maryland School of Medicine, 655 W Baltimore Street, Baltimore, MD 21201, USA
    Ann Neurol 68:70-80. 2010
    ....
  27. ncbi request reprint Triggers of paroxysmal dyskinesia in the calcium channel mouse mutant tottering
    Brandy E Fureman
    Department of Neurology, Johns Hopkins University School of Medicine, Meyer Room 6 181, 600 North Wolfe Street, Baltimore, MD 21287, USA
    Pharmacol Biochem Behav 73:631-7. 2002
    ..Together, these results suggest that the tottering mouse is a novel model to investigate triggers of episodic neurological disorders...
  28. ncbi request reprint Self-biting induced by activation of L-type calcium channels in mice: serotonergic influences
    Suhail Kasim
    Department of Neurology, Johns Hopkins Hospital, Baltimore, MD 21287, USA
    Dev Neurosci 24:322-7. 2002
    ..These results suggest that the ability of +/-Bay K 8644 to provoke self-injurious behaviors may be mediated by serotonergic influences...
  29. pmc Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene
    Rong Fu
    Department of Neurology, Emory University, Atlanta, Georgia 30322, USA
    J Biol Chem 287:2997-3008. 2012
    ..These studies provide a valuable model for understanding general principles of genotype-phenotype correlations in human disease, as the mechanisms involved are applicable to many other disorders...
  30. pmc Animal models of generalized dystonia
    Robert S Raike
    Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    NeuroRx 2:504-12. 2005
    ..Furthermore, detailed characterization of the existing models of dystonia and the development of new models hold promise for the identification of novel therapeutics...
  31. doi request reprint Cerebral ischemia mediates the effect of serum uric acid on cognitive function
    Tracy D Vannorsdall
    Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Stroke 39:3418-20. 2008
    ..We hypothesized that individual differences in white matter hyperintensities mediate the association between UA and mild cognitive dysfunction...
  32. ncbi request reprint Behavioral aspects of Lesch-Nyhan disease and its variants
    David J Schretlen
    Department of Psychiatry and Behavioral Sciences, The Johns Hopkins University School of Medicine, Baltimore, MD 21287 7218, USA
    Dev Med Child Neurol 47:673-7. 2005
    ..Although patients with LNV typically do not self-injure or display severe aggression, attention problems are common and a few patients demonstrate other behavioral anomalies...
  33. ncbi request reprint Influence of age and strain on striatal dopamine loss in a genetic mouse model of Lesch-Nyhan disease
    H A Jinnah
    Department of Neurology, Johns Hopkins Hospital, Baltimore, Maryland 21287, USA
    J Neurochem 72:225-9. 1999
    ..The magnitude of dopamine loss measurable is dependent on the genetic background of the mouse strain used, the basal ganglia subregion examined, and the age of the animals at assessment...
  34. pmc Subtle microstructural changes of the cerebellum in a knock-in mouse model of DYT1 dystonia
    Chang Hyun Song
    Department of Neurology, Emory University, Atlanta 30322, GA, USA
    Neurobiol Dis 62:372-80. 2014
    ..These results reveal subtle structural changes of the cerebellum that are similar to those reported for the basal ganglia in the DYT1 knock-in mouse model. ..
  35. ncbi request reprint Ocular motor dysfunction in Lesch-Nyhan disease
    H A Jinnah
    Department of Neurology, Johns Hopkins Hospital, Baltimore, MD 21287, USA
    Pediatr Neurol 24:200-4. 2001
    ..These disturbances of ocular motility are consistent with dysfunction of the basal ganglia or its connections with ocular motor centers in the prefrontal cortex or midbrain...
  36. ncbi request reprint Serum uric acid and brain ischemia in normal elderly adults
    D J Schretlen
    Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Neurology 69:1418-23. 2007
    ..Uric acid (UA) has antioxidant properties yet when elevated is associated with vascular disease and stroke. Further, even high normal UA is associated with increased risk of mild cognitive dysfunction in elderly adults...
  37. ncbi request reprint Craniocerebral magnetic resonance imaging measurement and findings in Lesch-Nyhan syndrome
    J C Harris
    Department of Psychiatry and Behavioral Sciences, The Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Arch Neurol 55:547-53. 1998
    ..To provide the first comprehensive magnetic resonance imaging (MRI) assessment of brain in a series of patients with Lesch-Nyhan syndrome (LNS), with emphasis on basal ganglia measurements...
  38. pmc Experimental therapeutics for dystonia
    H A Jinnah
    Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA
    Neurotherapeutics 5:198-209. 2008
    ..This multifaceted approach to drug discovery in dystonia will likely provide lead compounds that can then be translated for clinical use...
  39. ncbi request reprint Serum uric acid and cognitive function in community-dwelling older adults
    David J Schretlen
    Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD 21287 7218, USA
    Neuropsychology 21:136-40. 2007
    ..05). Despite its antioxidant properties, these findings suggest that even mild elevations of UA might increase the risk of cognitive decline among older adults...
  40. ncbi request reprint Intranuclear inclusions and neuritic aggregates in transgenic mice expressing a mutant N-terminal fragment of huntingtin
    G Schilling
    Department of Psychiatry, Division of Neuropathology, Johns Hopkins University, Baltimore, MD 21205 2196, USA
    Hum Mol Genet 8:397-407. 1999
    ..These findings are consistent with the idea that N-terminal fragments of huntingtin with a repeat expansion are toxic to neurons, and that N-terminal fragments are prone to form both intranuclear inclusions and neuritic aggregates...
  41. pmc Personalized chemotherapy profiling using cancer cell lines from selectable mice
    Hirohiko Kamiyama
    The Sol Goldman Pancreatic Cancer Research Center, Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21231, USA
    Clin Cancer Res 19:1139-46. 2013
    ..However, generating cell lines from primary cancers is difficult because contaminating stromal cells overgrow the malignant cells...
  42. pmc Keeping your head on target
    Aasef G Shaikh
    Department of Neurology, Case Western Reserve University, Cleveland, Ohio, USA
    J Neurosci 33:11281-95. 2013
    ....
  43. pmc The focal dystonias: current views and challenges for future research
    H A Jinnah
    Department of Neurology, Emory University, Atlanta, Georgia 30322, USA
    Mov Disord 28:926-43. 2013
    ..The concluding section outlines some of the most important research questions for the future. Answers to these questions are critical for advancing our understanding of this group of disorders and for developing novel therapeutics...
  44. pmc Irregularity distinguishes limb tremor in cervical dystonia from essential tremor
    A G Shaikh
    Department of Neurology, The Johns Hopkins Hospital, 600 North Wolfe Street, Pathology 2 210, Baltimore, MD 21287, USA
    J Neurol Neurosurg Psychiatry 79:187-9. 2008
    ..Whether a common central mechanism underlies the tremor in these conditions is unknown. We addressed this issue by quantifying limb tremor in 19 patients with CD and 35 patients with ET...
  45. pmc Sudden death in Lesch-Nyhan disease
    Vladimir Kostadinov Neychev
    Department of Neurology, Johns Hopkins Hospital, Baltimore, MD 21287, USA
    Dev Med Child Neurol 48:923-6. 2006
    ..Better recognition of these processes will help to guide appropriate workup and management that could include chest imaging, endoscopy of the airways, polysomnography, electroencephalogram, and brain and/or spine imaging...