J C Jen

Summary

Affiliation: University of California
Country: USA

Publications

  1. pmc Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
    Jijun Wan
    Department of Neurology, University of California, Los Angeles, California, USA
    Nat Genet 44:704-8. 2012
  2. doi request reprint Recent advances in the genetics of recurrent vertigo and vestibulopathy
    Joanna C Jen
    Department of Neurology, UCLA School of Medicine, Los Angeles, CA 90095 1769, USA
    Curr Opin Neurol 21:3-7. 2008
  3. ncbi request reprint No mutations in CACNA1A and ATP1A2 in probands with common types of migraine
    Joanna C Jen
    Department of Neurology, University of California, Los Angeles, Los Angeles, CA 90095, USA
    Arch Neurol 61:926-8. 2004
  4. pmc Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis
    Joanna C Jen
    Department of Neurology, University of California, Los Angeles, CA 90095, USA
    Science 304:1509-13. 2004
  5. ncbi request reprint Clinical spectrum of episodic ataxia type 2
    J Jen
    UCLA Neurology, 90095 1769, USA
    Neurology 62:17-22. 2004
  6. ncbi request reprint Suggestive linkage to chromosome 6q in families with bilateral vestibulopathy
    J C Jen
    Department of Neurology, UCLA School of Medicine, Los Angeles, CA, USA
    Neurology 63:2376-9. 2004
  7. ncbi request reprint Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25
    Joanna Jen
    Department of Neurology, Division of Head and Neck Surgery, UCLA School of Medicine, 710 Westwood Plaza, Box 951769, Los Angeles, CA 90095 1769, USA
    Neurology 59:432-5. 2002
  8. doi request reprint Hereditary episodic ataxias
    Joanna C Jen
    Department of Neurology, UCLA School of Medicine, Los Angeles, California 90095 1769, USA
    Ann N Y Acad Sci 1142:250-3. 2008
  9. ncbi request reprint Familial episodic ataxia: a model for migrainous vertigo
    Joanna C Jen
    UCLA Neurology, Los Angeles, California, USA
    Ann N Y Acad Sci 1164:252-6. 2009
  10. ncbi request reprint Bilateral vestibulopathy: clinical, diagnostic, and genetic considerations
    Joanna C Jen
    David Geffen School of Medicine at UCLA, Los Angeles, CA 90095 1769, USA
    Semin Neurol 29:528-33. 2009

Collaborators

Detail Information

Publications45

  1. pmc Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
    Jijun Wan
    Department of Neurology, University of California, Los Angeles, California, USA
    Nat Genet 44:704-8. 2012
    ....
  2. doi request reprint Recent advances in the genetics of recurrent vertigo and vestibulopathy
    Joanna C Jen
    Department of Neurology, UCLA School of Medicine, Los Angeles, CA 90095 1769, USA
    Curr Opin Neurol 21:3-7. 2008
    ..To focus on recent advances in the genetics of recurrent vertigo, with an overview on episodic ataxia, benign recurrent vertigo (mainly migraine-associated vertigo), bilateral vestibulopathy, and Ménière's disease...
  3. ncbi request reprint No mutations in CACNA1A and ATP1A2 in probands with common types of migraine
    Joanna C Jen
    Department of Neurology, University of California, Los Angeles, Los Angeles, CA 90095, USA
    Arch Neurol 61:926-8. 2004
    ..Mutations in CACNA1A, encoding a neuronal calcium channel subunit, and ATP1A2, encoding a catalytic subunit of a sodium-potassium-ATPase, have been found in some families with dominantly inherited hemiplegic migraine...
  4. pmc Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis
    Joanna C Jen
    Department of Neurology, University of California, Los Angeles, CA 90095, USA
    Science 304:1509-13. 2004
    ..Like its murine homolog Rig1/Robo3, but unlike other Robo proteins, ROBO3 is required for hindbrain axon midline crossing...
  5. ncbi request reprint Clinical spectrum of episodic ataxia type 2
    J Jen
    UCLA Neurology, 90095 1769, USA
    Neurology 62:17-22. 2004
    ..Overall, the type of mutation, missense versus nonsense, or the location of altered or truncated amino acid residues did not predict the clinical phenotype...
  6. ncbi request reprint Suggestive linkage to chromosome 6q in families with bilateral vestibulopathy
    J C Jen
    Department of Neurology, UCLA School of Medicine, Los Angeles, CA, USA
    Neurology 63:2376-9. 2004
    ..No genetic mutations have been identified in families with bilateral vestibulopathy and normal hearing...
  7. ncbi request reprint Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25
    Joanna Jen
    Department of Neurology, Division of Head and Neck Surgery, UCLA School of Medicine, 710 Westwood Plaza, Box 951769, Los Angeles, CA 90095 1769, USA
    Neurology 59:432-5. 2002
    ..Genomewide homozygosity mapping and linkage analysis mapped the disease locus to a 30-cM interval on chromosome 11q23-25 (combined maximum multipoint lod score Z = 5.46)...
  8. doi request reprint Hereditary episodic ataxias
    Joanna C Jen
    Department of Neurology, UCLA School of Medicine, Los Angeles, California 90095 1769, USA
    Ann N Y Acad Sci 1142:250-3. 2008
    ..This review summarizes recent advances and focuses on practical approaches in the diagnosis and treatment of episodic ataxia...
  9. ncbi request reprint Familial episodic ataxia: a model for migrainous vertigo
    Joanna C Jen
    UCLA Neurology, Los Angeles, California, USA
    Ann N Y Acad Sci 1164:252-6. 2009
    ..Efforts are ongoing to perform genomewide association studies to identify risk alleles for migrainous vertigo, which may also be relevant to migraine in general...
  10. ncbi request reprint Bilateral vestibulopathy: clinical, diagnostic, and genetic considerations
    Joanna C Jen
    David Geffen School of Medicine at UCLA, Los Angeles, CA 90095 1769, USA
    Semin Neurol 29:528-33. 2009
    ..Furthermore, the study of bilateral vestibulopathy may shed light on the pathophysiology of more common vestibular syndromes such as benign recurrent vertigo and vestibular migraine...
  11. ncbi request reprint Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission
    J Jen
    Departments of Neurology, UCLA School of Medicine, Los Angeles, CA 90095 1769, USA
    Neurology 57:1843-8. 2001
    ..To examine the functional consequences of episodic ataxia type 2 (EA2)-causing nonsense and missense mutations in vitro and to characterize the basis of fluctuating weakness in patients with E2A...
  12. doi request reprint Genetics of vestibulopathies
    Joanna C Jen
    Department of Neurology, UCLA School of Medicine, Los Angeles, Calif, USA
    Adv Otorhinolaryngol 70:130-4. 2011
    ....
  13. ncbi request reprint Effects of failure of development of crossing brainstem pathways on ocular motor control
    Joanna C Jen
    Department of Neurology, UCLA School of Medicine, 710 Westwood Plaza, Los Angeles, CA, USA
    Prog Brain Res 171:137-41. 2008
    ..Elucidation of the full extent of the anatomical abnormalities in HGPPS awaits improved neuroimaging techniques and detailed pathological studies...
  14. ncbi request reprint A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia
    J Jen
    Department of Neurology, University of California at Los Angeles School of Medicine, 90095 1769, USA
    Neurology 53:34-7. 1999
    ..To identify the disease-causing mutation and to characterize penetrance and phenotypic variability in a large pedigree with episodic ataxia type 2 (EA-2) previously linked to chromosome 19...
  15. ncbi request reprint Calcium channelopathies in the central nervous system
    J Jen
    Department of Neurology, UCLA School of Medicine, Box 951769, 710 Westwood Plaza, Los Angeles, California 90095 1769, USA
    Curr Opin Neurobiol 9:274-80. 1999
    ..Calcium channelopathies in the central nervous system provide a model to study the important roles that calcium channels play in neuronal function...
  16. pmc Prolonged hemiplegic episodes in children due to mutations in ATP1A2
    J C Jen
    Department of Neurology, UCLA School of Medicine, Los Angeles, California 90095 1769, USA
    J Neurol Neurosurg Psychiatry 78:523-6. 2007
    ..Genetically and clinically heterogeneous, FHM1 is caused by mutations in CACNA1A and FHM2 by mutations in ATP1A2...
  17. ncbi request reprint Genetic heterogeneity of autosomal dominant nonprogressive congenital ataxia
    J C Jen
    Department of Neurology, School of Medicine, University of California, Los Angeles 90095 1769, USA
    Neurology 67:1704-6. 2006
    ..1-35.3, 7q36.2-36.3, and 9q31.2-32 and ruled out linkage to the NPCA locus on 3p, proving genetic heterogeneity for autosomal dominant NPCA...
  18. ncbi request reprint Primary episodic ataxias: diagnosis, pathogenesis and treatment
    J C Jen
    Department of Neurology, UCLA School of Medicine, Los Angeles, CA, USA
    Brain 130:2484-93. 2007
    ....
  19. pmc Progressive ataxia due to a missense mutation in a calcium-channel gene
    Q Yue
    Department of Neurology, UCLA School of Medicine, Los Angeles, CA 90095 1769, USA
    Am J Hum Genet 61:1078-87. 1997
    ..Since a great deal is known about the function of calcium channels, we speculate on how this missense mutation leads to the combination of clinical symptoms and signs...
  20. ncbi request reprint CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics
    J Wan
    Department of Neurology, University of California at Los Angeles, 710 Westwood Plaza, Los Angeles, CA 90095 1769, USA
    Neurology 64:2090-7. 2005
    ..Mutations in CACNA1A cause a wide range of neurologic disturbances variably associated with cerebellar degeneration. Functional studies to date focus on electrophysiologic defects that do not adequately explain the phenotypic findings...
  21. ncbi request reprint Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures
    J C Jen
    Department of Neurology, School of Medicine, University of California, Los Angeles, CA 90095, USA
    Neurology 65:529-34. 2005
    ..Mutant gene products of both CACNA1A and ATP1A2 may affect neurotransmission of glutamate, the most abundant excitatory amino acid neurotransmitter...
  22. pmc Episodic vertical oscillopsia with progressive gait ataxia: clinical description of a new episodic syndrome and evidence of linkage to chromosome 13q
    Y H Cha
    Department of Neurology, University of California Los Angeles, 710 Westwood Plaza Box 951769, Los Angeles, CA 90095, USA
    J Neurol Neurosurg Psychiatry 78:1273-5. 2007
    ..6 cM (approximately 14.2 Mb) on chromosome 13q12.11-q13.3, composed of 1259 SNPs, was shared between affected individuals in two of the four families and highlighted a region of suggestive linkage (LOD >2.7)...
  23. ncbi request reprint Familial migraine with vertigo: no mutations found in CACNA1A
    J S Kim
    Department of Neurology, UCLA School of Medicine, Los Angeles, California 90095 1769, USA
    Am J Med Genet 79:148-51. 1998
    ..Mutations in CACNA1A are not common in families with migraine headaches and episodic vertigo. Other ion channel genes expressed in the brain and inner ear remain candidate genes...
  24. ncbi request reprint De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia
    Q Yue
    Department of Neurology, UCLA School of Medicine, Los Angeles, California 90095 1769, USA
    Am J Med Genet 77:298-301. 1998
    ..Exon 23 of the patient showed a spontaneous C to T substitution at position 4410 resulting in an early stop codon. Patients with nonfamilial episodic ataxia may respond to acetazolamide and may have mutations in CACNA1A...
  25. ncbi request reprint Familial benign recurrent vertigo
    A K Oh
    Department of Neurology, UCLA School of Medicine, Los Angeles, California 90095-1769, USA
    Am J Med Genet 100:287-91. 2001
    ..In the search for the causative gene, vertigo may be a more useful marker than migraine because recurrent vertigo is relatively rare in the general population whereas migraine is very common...
  26. ncbi request reprint Novel CCM1 mutation in a patient with paraparesis and thoracic cord cavernous malformation
    M F Waters
    Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA
    Neurology 65:966-7. 2005
  27. ncbi request reprint Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations
    N L Sicotte
    Department of Neurology, Division of Brain Mapping, Interdepartmental Programs, UCLA, USA
    Neurology 67:519-21. 2006
    ..Mutations in the ROBO3 gene lead to a widespread lack of crossing fibers throughout the brainstem...
  28. ncbi request reprint A novel mutation in KCNA1 causes episodic ataxia without myokymia
    Hane Lee
    Department of Human Genetics, University of California, Los Angeles, California, USA
    Hum Mutat 24:536. 2004
    ..This mutation leads to a distinct clinical phenotype without myokymia broadening the scope of clinical characteristics of EA1 and highlighting the heterogeneity of phenotypic effects from distinct missense mutations...
  29. ncbi request reprint Slowing of voluntary and involuntary saccades: an early sign in spinocerebellar ataxia type 7
    A K Oh
    Department of Neurology, University of California Los Angeles School of Medicine, 90095-1769, USA
    Ann Neurol 49:801-4. 2001
    ..Slow saccades may be the earliest neurologic finding even in asymptomatic SCA7 patients with normal ocular fundi. The SCA7 mutation probably has an early impact on brainstem fast eye movement centers...
  30. ncbi request reprint Association of progesterone receptor with migraine-associated vertigo
    Hane Lee
    Department of Human Genetics, University of California, Los Angeles, Los Angeles, CA 90095, USA
    Neurogenetics 8:195-200. 2007
    ..0007). Two SNPs (rs2228480 and rs1801132) within ESR1 demonstrated no significant association. No synergistic effect between ESR1 variants and PGR variants was identified...
  31. ncbi request reprint Three brothers with a very-late-onset writer's cramp
    Roongroj Bhidayasiri
    Department of Neurology, UCLA Medical Center, Geffen School of Medicine, University of California, Los Angeles, California 90095, USA
    Mov Disord 20:1375-7. 2005
    ..We describe a family of Bulgarian descent with three brothers presenting with a very-late-onset dystonic WC, compatible with linkage to chromosome 18p...
  32. ncbi request reprint Genetics of familial episodic vertigo and ataxia
    Robert W Baloh
    Department of Neurology and Division of Surgery Head and Neck, UCLA School of Medicine, Los Angeles, California 90095 1769, USA
    Ann N Y Acad Sci 956:338-45. 2002
    ..An ion channel mutation shared by brain and inner ear could explain the combined central and peripheral features of the syndrome...
  33. ncbi request reprint Ocular motility in genetically defined autosomal dominant cerebellar ataxia
    Jacques S Durig
    Department of Ophthalmology, University of California, Los Angeles, California 90095 7002, USA
    Am J Ophthalmol 133:718-21. 2002
    ..To describe ocular motility in patients having genetically characterized dominant cerebellar ataxia...
  34. ncbi request reprint Genetics of episodic ataxia
    Joanna C Jen
    Department of Neurology, UCLA School of Medicine, Los Angeles, California, USA
    Adv Neurol 89:459-61. 2002
  35. pmc Phenotypic and genetic analysis of a large family with migraine-associated vertigo
    Hane Lee
    Department of Human Genetics, University of California, Los Angeles, CA 90095, USA
    Headache 48:1460-7. 2008
    ..To describe a large multigenerational family with migraine-associated vertigo (MAV) combining a detailed phenotypic and genetic analysis...
  36. ncbi request reprint Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene)
    Robert H Baloh
    Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA
    Neurology 62:1905-6. 2004
  37. ncbi request reprint Nonconsensus intronic mutations cause episodic ataxia
    Jijun Wan
    Department of Neurology, University of California at Los Angeles, 710 Westwood Plaza, Los Angeles, CA 90095 1769, USA
    Ann Neurol 57:131-5. 2005
    ..The identification of these disease-causing mutations expands the spectrum of EA2 mutations and emphasizes the importance of intronic sequences in regulating gene expression...
  38. ncbi request reprint A new episodic ataxia syndrome with linkage to chromosome 19q13
    Kevin A Kerber
    Department of Neurology, UCLA, Los Angeles, California 90095 1769, USA
    Arch Neurol 64:749-52. 2007
    ..Multiple episodic ataxia phenotypes and genotypes have been described...
  39. ncbi request reprint A genome-wide linkage scan of familial benign recurrent vertigo: linkage to 22q12 with evidence of heterogeneity
    Hane Lee
    Department of Human Genetics, University of California, Los Angeles, 90095, USA
    Hum Mol Genet 15:251-8. 2006
    ..Additional family and population-based linkage and association studies will be needed to determine the causative alleles...
  40. ncbi request reprint Late-onset pure cerebellar ataxia: differentiating those with and without identifiable mutations
    Kevin A Kerber
    Department of Neurology, UCLA School of Medicine, Los Angeles, CA, USA
    J Neurol Sci 238:41-5. 2005
    ..Although only a third of these idiopathic late onset ataxia patients had a positive family history, this homogeneous syndrome probably represents a yet to be identified genetic disorder...
  41. ncbi request reprint Blessed are the pacemakers
    Thomas S Otis
    Nat Neurosci 9:297-8. 2006
  42. ncbi request reprint Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea
    Steven J Shook
    Neurologic Institute, Neuromuscular Center, Cleveland Clinic, 9500 Euclid Ave, Cleveland, OH 44195, USA
    Muscle Nerve 37:399-402. 2008
    ..We identified a novel 3-nucleotide deletion mutation in KCNA1 in the affected individuals. Our findings of a deletion mutation with unusual respiratory muscle involvement expand the genetic and clinical spectrum of EA1...
  43. doi request reprint Progressive cerebellar ataxia with variable episodic symptoms--phenotypic diversity of R1668W CACNA1A mutation
    Sarah Marti
    Department of Neurology, Zurich University Hospital, Zurich, Switzerland
    Eur Neurol 60:16-20. 2008
    ..Our report highlights profound phenotypic variability that can be associated with CACNA1A mutations and adds important therapeutic considerations...
  44. ncbi request reprint Neurotological findings in a family with episodic ataxia
    Osamu Sasaki
    J Neurol 250:373-5. 2003
  45. ncbi request reprint C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy
    Anna Richards
    Department of Medicine, Division of Rheumatology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Nat Genet 39:1068-70. 2007
    ..These data have implications for the maintenance of vascular integrity in the degenerative cerebral microangiopathies leading to stroke and dementias...

Research Grants13

  1. Pathobiology of Retinal Vasculopathy with Cerebal Leukodystrophy (RVCL)
    Joanna Jen; Fiscal Year: 2009
    ..abstract_text> ..
  2. MUTATIONS IN CALCIUM CHANNELS CAUSING VERTIGO AND ATAXIA
    Joanna Jen; Fiscal Year: 2002
    ..The further relevance of this work to the more common basilar migraine and Meniere's syndrome is emphasized by the overlapping symptoms of vertigo and ataxia in the group of patients that we propose to study. ..
  3. Pathobiology of Retinal Vasculopathy with Cerebal Leukodystrophy (RVCL)
    Joanna C Jen; Fiscal Year: 2010
    ..abstract_text> ..
  4. Genetics of Familial Episodic Ataxia
    Joanna Jen; Fiscal Year: 2009
    ..Insights gained from the study will lead to improved diagnosis and treatment of familial episodic ataxia and the more common episodic vertigo syndromes. ..
  5. THE GENETIC & FUNCTIONAL ANATOMICAL BASIS OF HGPPS
    Joanna Jen; Fiscal Year: 2009
    ..Understanding the anatomical and molecular basis of HGPPS will provide insight into the genetically programmed neurodevelopment of the conjugate horizontal gaze center and other cranial nuclei in the brainstem. ..
  6. THE GENETIC & FUNCTIONAL ANATOMICAL BASIS OF HGPPS
    Joanna Jen; Fiscal Year: 2007
    ..Understanding the anatomical and molecular basis of HGPPS will provide insight into the genetically programmed neurodevelopment of the conjugate horizontal gaze center and other cranial nuclei in the brainstem. ..
  7. THE GENETIC & FUNCTIONAL ANATOMICAL BASIS OF HGPPS
    Joanna Jen; Fiscal Year: 2005
    ..Understanding the anatomical and molecular basis of HGPPS will provide insight into the genetically programmed neurodevelopment of the conjugate horizontal gaze center and other cranial nuclei in the brainstem. ..
  8. THE GENETIC & FUNCTIONAL ANATOMICAL BASIS OF HGPPS
    Joanna Jen; Fiscal Year: 2006
    ..Understanding the anatomical and molecular basis of HGPPS will provide insight into the genetically programmed neurodevelopment of the conjugate horizontal gaze center and other cranial nuclei in the brainstem. ..
  9. International Conference on Episodic Ataxia Syndromes
    Joanna Jen; Fiscal Year: 2005
    ..abstract_text> ..
  10. THE GENETIC & FUNCTIONAL ANATOMICAL BASIS OF HGPPS
    Joanna Jen; Fiscal Year: 2005
    ..Understanding the anatomical and molecular basis of HGPPS will provide insight into the genetically programmed neurodevelopment of the conjugate horizontal gaze center and other cranial nuclei in the brainstem. ..
  11. GENETIC & FUNCTIONAL ANATOMICAL BASIS OF HGPPS
    Joanna Jen; Fiscal Year: 2004
    ..Understanding the anatomical and molecular basis of HGPPS will provide insight into the genetically programmed neurodevelopment of the conjugate horizontal gaze center and other cranial nuclei in the brainstem. ..
  12. Genetics of Familial Episodic Ataxia
    Joanna C Jen; Fiscal Year: 2010
    ..Insights gained from the study will lead to improved diagnosis and treatment of familial episodic ataxia and the more common episodic vertigo syndromes. ..