Kleopas A Kleopa

Summary

Affiliation: The Cyprus Institute of Neurology and Genetics
Country: Cyprus

Publications

  1. ncbi request reprint Cellular mechanisms of connexin32 mutations associated with CNS manifestations
    Kleopas A Kleopa
    Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    J Neurosci Res 68:522-34. 2002
  2. ncbi request reprint Neurogenic vestibular evoked potentials in the diagnosis of multiple sclerosis
    E S Papathanasiou
    Department of Clinical Neurophysiology, The Cyprus Institute of Neurology and Genetics, 6 International Airport Avenue, PO Box 23462, Nicosia 1683, Cyprus
    Electromyogr Clin Neurophysiol 44:313-7. 2004
  3. pmc Human oligodendrocytes express Cx31.3: function and interactions with Cx32 mutants
    Irene Sargiannidou
    Clinical Neurosciences Section, Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Neurobiol Dis 30:221-33. 2008
  4. ncbi request reprint Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X
    K A Kleopa
    Department of Clinical Neurosciences, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Neurology 66:396-402. 2006
  5. ncbi request reprint A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes
    Kleopas A Kleopa
    Department of Clinical Neurosciences, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Neurogenetics 5:171-5. 2004
  6. ncbi request reprint Gap junction disorders of myelinating cells
    Kleopas A Kleopa
    Neuroscience Laboratory, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Rev Neurosci 21:397-419. 2010
  7. ncbi request reprint Unique distributions of the gap junction proteins connexin29, connexin32, and connexin47 in oligodendrocytes
    Kleopas A Kleopa
    Department of Neurology, University of Pennsylvania Medical Center, Philadelphia, USA
    Glia 47:346-57. 2004
  8. ncbi request reprint Neuromyotonia and limbic encephalitis sera target mature Shaker-type K+ channels: subunit specificity correlates with clinical manifestations
    Kleopas A Kleopa
    Department of Clinical Neurosciences, Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus, PA, USA
    Brain 129:1570-84. 2006
  9. ncbi request reprint Molecular genetics of X-linked Charcot-Marie-Tooth disease
    Kleopas A Kleopa
    Department of Clinical Neurosciences, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Neuromolecular Med 8:107-22. 2006
  10. pmc Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects
    Irene Sargiannidou
    Neuroscience Laboratory, The Cyprus Institute of Neurology and Genetics, 1683 Nicosia, Cyprus
    J Neurosci 29:4736-49. 2009

Collaborators

Detail Information

Publications37

  1. ncbi request reprint Cellular mechanisms of connexin32 mutations associated with CNS manifestations
    Kleopas A Kleopa
    Department of Neurology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    J Neurosci Res 68:522-34. 2002
    ..These results indicate that Cx32 mutants that are associated with a CNS phenotype do not interact with Cx45, but may instead have other toxic effects in oligodendrocytes...
  2. ncbi request reprint Neurogenic vestibular evoked potentials in the diagnosis of multiple sclerosis
    E S Papathanasiou
    Department of Clinical Neurophysiology, The Cyprus Institute of Neurology and Genetics, 6 International Airport Avenue, PO Box 23462, Nicosia 1683, Cyprus
    Electromyogr Clin Neurophysiol 44:313-7. 2004
    ....
  3. pmc Human oligodendrocytes express Cx31.3: function and interactions with Cx32 mutants
    Irene Sargiannidou
    Clinical Neurosciences Section, Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Neurobiol Dis 30:221-33. 2008
    ..3. Thus, Cx31.3 shares many characteristics with its ortholog Cx29. Cx32 mutants with CNS phenotypes do not affect the trafficking or function of Cx31.3, and may have other toxic effects in oligodendrocytes...
  4. ncbi request reprint Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X
    K A Kleopa
    Department of Clinical Neurosciences, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Neurology 66:396-402. 2006
    ..To determine the phenotypic and cellular expression of two novel connexin32 (Cx32) mutations causing X-linked Charcot-Marie-Tooth disease (CMT1X)...
  5. ncbi request reprint A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes
    Kleopas A Kleopa
    Department of Clinical Neurosciences, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Neurogenetics 5:171-5. 2004
    ..In all affected individuals there was clinical and electrophysiological evidence of diffuse demyelinating sensorimotor polyneuropathy and a novel point mutation in the PMP22 gene (Ser22Phe) was identified...
  6. ncbi request reprint Gap junction disorders of myelinating cells
    Kleopas A Kleopa
    Neuroscience Laboratory, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Rev Neurosci 21:397-419. 2010
    ..Here we review the clinical, genetic, and neurobiological aspects of GJ disorders affecting the PNS and CNS myelinating cells...
  7. ncbi request reprint Unique distributions of the gap junction proteins connexin29, connexin32, and connexin47 in oligodendrocytes
    Kleopas A Kleopa
    Department of Neurology, University of Pennsylvania Medical Center, Philadelphia, USA
    Glia 47:346-57. 2004
    ..This diversity of connexins in oligodendrocytes (in different populations of cells and in different subcellular compartments) likely reflects functional differences between these connexins and perhaps the oligodendrocytes themselves...
  8. ncbi request reprint Neuromyotonia and limbic encephalitis sera target mature Shaker-type K+ channels: subunit specificity correlates with clinical manifestations
    Kleopas A Kleopa
    Department of Clinical Neurosciences, Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus, PA, USA
    Brain 129:1570-84. 2006
    ..Although more than one type of antibody is often detectable in individual sera, higher affinity for certain subunits or subunit combinations may determine the range of clinical manifestations...
  9. ncbi request reprint Molecular genetics of X-linked Charcot-Marie-Tooth disease
    Kleopas A Kleopa
    Department of Clinical Neurosciences, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Neuromolecular Med 8:107-22. 2006
    ..No definite phenotype-genotype correlation has yet been established for CMT1X and effective molecular based therapeutics for this disease, remain to be developed...
  10. pmc Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects
    Irene Sargiannidou
    Neuroscience Laboratory, The Cyprus Institute of Neurology and Genetics, 1683 Nicosia, Cyprus
    J Neurosci 29:4736-49. 2009
    ..These findings suggest that Cx32 mutations result in loss of function in myelinated cells without trans-dominant effects on other GJ proteins. Loss of Cx32 function alone in the CNS causes myelination defects...
  11. ncbi request reprint Diverse trafficking abnormalities of connexin32 mutants causing CMTX
    Sabrina W Yum
    Division of Neurology, St Christopher s Hospital For Children, MCP Hahnemann University, Philadelphia, Pennsylvania 19134, USA
    Neurobiol Dis 11:43-52. 2002
    ..Thus, many CMTX mutants have trafficking abnormalities, whereas the carboxy-terminus mutants reach the cell membrane and probably cause disease through other mechanisms...
  12. doi request reprint Disruption of oligodendrocyte gap junctions in experimental autoimmune encephalomyelitis
    Kyriaki Markoullis
    Neuroscience Laboratory, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Glia 60:1053-66. 2012
    ..Furthermore, GJ deficient myelinated fibers appear more vulnerable to CNS inflammatory demyelination...
  13. ncbi request reprint Molecular mechanisms of gap junction mutations in myelinating cells
    Irene Sargiannidou
    Neuroscience Laboratory, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Histol Histopathol 25:1191-206. 2010
    ..Here we provide an overview of the clinical, genetic, and neurobiological aspects of gap junction disorders affecting the nervous system...
  14. doi request reprint Charcot-Marie-Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics
    Paschalis Nicolaou
    Neurogenetics Department, Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Neuroepidemiology 35:171-7. 2010
    ..Inheritance can be autosomal dominant, recessive or X-linked. CMT is associated with more than 30 loci, and about 25 causative genes have been described thus far...
  15. doi request reprint Gap junction pathology in multiple sclerosis lesions and normal-appearing white matter
    Kyriaki Markoullis
    Neuroscience Laboratory, The Cyprus Institute of Neurology and Genetics, P O Box 23462, 1683 Nicosia, Cyprus
    Acta Neuropathol 123:873-86. 2012
    ..Moreover, limited O/A GJ connectivity of recruited OPCs in the setting of persistent inflammation and astrogliosis may prevent differentiation and remyelination...
  16. pmc Axonal pathology precedes demyelination in a mouse model of X-linked demyelinating/type I Charcot-Marie Tooth neuropathy
    Natalie Vavlitou
    Neuroscience Laboratory and Neurology Clinics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    J Neuropathol Exp Neurol 69:945-58. 2010
    ..These findings demonstrate that axonal abnormalities including impaired cytoskeletal organization and defects in axonal transport precede demyelination in this mouse model of CMT1X...
  17. doi request reprint Investigation of SCA10 in the Cypriot population: further exclusion of SCA dynamic repeat mutations
    Christina Votsi
    Neurogenetics Department, The Cyprus Institute of Neurology and Genetics, 6 International Airport Avenue, Nicosia, Cyprus
    J Neurol Sci 323:154-7. 2012
    ..Therefore, all currently established dynamic repeat SCA mutations are absent from the Cypriot population, indicating distinct genetic causes...
  18. doi request reprint A novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family
    Nikolay Mintchev
    The Cyprus Institute of Neurology and Genetics, 6 International Airport Avenue, Ayios Dhometios, 2370 Nicosia, Cyprus
    Neurology 72:28-32. 2009
    ..Juvenile-onset PLS (JPLS) is inherited in an autosomal recessive mode and is also found in sporadic cases. A consanguineous Cypriot family with three affected individuals presenting with JPLS was identified and studied...
  19. ncbi request reprint KCNQ2 is a nodal K+ channel
    Jérôme J Devaux
    Department of Neurology, University of Pennsylvania Medical Center, Philadelphia, Pennsylvania 19104 6077, USA
    J Neurosci 24:1236-44. 2004
    ..The diminished activity of mutant KCNQ2 channels accounts for neonatal epilepsy and myokymia; the cellular locus of these effects may be axonal initial segments and nodes...
  20. pmc How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?
    Kleopas A Kleopa
    Neurology Clinics and Neuroscience Laboratory, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Brain Res 1487:198-205. 2012
    ..Animal models of CMT1X demonstrate that loss of Cx32 in myelinating Schwann cells causes a demyelinating neuropathy. Effective therapies remain to be developed. This article is part of a Special Issue entitled Electrical Synapses...
  21. ncbi request reprint Multifocal motor neuropathy with conduction block associated with metastatic lymphoma of the nervous system
    Britta V Stern
    Department of Neurology, Brain Tumor Center, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Neurooncol 78:81-4. 2006
    ..Marked neurological improvement was achieved using intravenous immunoglobulin treatment. To our knowledge, MMNCB has thus far not been described as part of the spectrum of lymphoma-related peripheral neuropathies...
  22. ncbi request reprint Unobtainable radial nerve F-waves in a case of radial nerve conduction block
    E Papathanasiou
    Department of Clinical Neurosciences, The Cyprus Institute of Neurology and Genetics, 6 International Airport Avenue, P O Box 23462, Nicosia 1683, Cyprus
    Electromyogr Clin Neurophysiol 44:451-4. 2004
    ..This case further demonstrates that F-waves are used not only to rule out neuropathy or radiculopathy, but also to detect conduction block...
  23. ncbi request reprint Vestibular symptoms and signs are correlated with abnormal neurogenic vestibular evoked potentials in patients with multiple sclerosis
    E S Papathanasiou
    Department of Clinical Neurophysiology, The Cyprus Institute of Neurology and Genetics, 6 International Airport Avenue, PO Box 23462, Nicosia 1683, Cyprus
    Electromyogr Clin Neurophysiol 45:195-201. 2005
    ..We wished to determine possible correlations of abnormal findings in NVsEP with clinical neurological findings related to the vestibular system, and demyelination seen on MRI...
  24. ncbi request reprint Ulnar neuropathy at Guyon's canal: electrophysiological and surgical findings
    E S Papathanasiou
    Department of Clinical Neurophysiology, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Electromyogr Clin Neurophysiol 45:87-92. 2005
    ..This case illustrates the usefulness of electrodiagnostic studies in the localization of nerve entrapment prior to surgery...
  25. ncbi request reprint Neurogenic vestibular evoked potentials in three cases of vestibular system dysfunction
    E S Papathanasiou
    Department of Clinical Neurophysiology, The Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus
    Electromyogr Clin Neurophysiol 45:39-45. 2005
    ..To demonstrate that neurogenic vestibular evoked potentials (NVsEP) may be specific to the vestibular system using three cases of vestibular system dysfunction and normal auditory function,..
  26. ncbi request reprint Inherited neuropathies
    Kleopas A Kleopa
    University of Pennsylvania Medical Center, 3400 Spruce Street, 3 West Gates, Philadelphia, PA 19104, USA
    Neurol Clin 20:679-709. 2002
    ..Increasing knowledge of the molecular-genetic causes of inherited neuropathies facilitates faster, more accurate diagnosis, and sets the stage for development of specific therapeutic interventions...
  27. ncbi request reprint Compressive lumbar myelopathy presenting as segmental motor neuron disease
    Kleopas A Kleopa
    Department of Clinical Neurosciences, The Cyprus Institute of Neurology and Genetics, PO Box 23462, 1683 Nicosia, Cyprus
    Muscle Nerve 28:69-73. 2003
    ..This unusual purely motor presentation may result from ischemic myelopathy secondary to compression of the anterior spinal artery...
  28. ncbi request reprint Acute axonal neuropathy in maple syrup urine disease
    K A Kleopa
    Department of Neurology, University of Pennsylvania School of Medicine, 3400 Spruce Street, 3 West Gates, Philadelphia, Pennsylvania 19104 4283, USA
    Muscle Nerve 24:284-7. 2001
    ..Peripheral neuropathy, although not identified previously as a clinical feature of MSUD, may become more common as chronic dietary restrictions and improved management of the disease allow survival into adulthood...
  29. ncbi request reprint Reversible inflammatory and vacuolar myopathy with vitamin E deficiency in celiac disease
    Kleopas A Kleopa
    Department of Clinical Neurosciences, Cyprus Institute of Neurology and Genetics, P O Box 23462, Nicosia, Cyprus
    Muscle Nerve 31:260-5. 2005
    ..Anti-gliadin antibodies were no longer present. This case illustrates the spectrum of neurological complications of celiac disease and documents the occurrence of reversible pathology resembling inclusion-body myopathy in the muscle...
  30. pmc X-linked Charcot-Marie-Tooth disease
    Steven S Scherer
    Department of Neurology, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
    J Peripher Nerv Syst 17:9-13. 2012
    ..Animal models of CMT1X demonstrate that loss of Cx32 in myelinating Schwann cells causes a demyelinating neuropathy. An effective therapy remains to be developed...
  31. ncbi request reprint Naturally occurring utrophin correlates with disease severity in Duchenne muscular dystrophy
    Kleopas A Kleopa
    Division of Clinical Neurosciences, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Hum Mol Genet 15:1623-8. 2006
    ..We found that utrophin expression increases with age in DMD and that there is a significant positive correlation between the quantity of utrophin at initial biopsy and time to becoming wheelchair-bound...
  32. ncbi request reprint A novel movement disorder of the lower lip
    Kleopas A Kleopa
    Department of Clinical Neurosciences, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
    Mov Disord 19:663-6. 2004
    ..Extensive laboratory investigation failed to reveal any causative factors for secondary focal dystonia. Treatment with oral medications and botulinum toxin was mostly ineffective. Spontaneous remissions were frequent...
  33. ncbi request reprint Chronic multiple paraneoplastic syndromes
    K A Kleopa
    Department of Neurology, 3 West Gates, University of Pennsylvania Medical Center, 3400 Spruce Street, Philadelphia, Pennsylvania 19104 4283, USA
    Muscle Nerve 23:1767-72. 2000
    ..Remission of the malignancy was achieved. Although the anti-Hu-related manifestations improved after therapy, LEMS has persisted, leading to IVIg dependency...
  34. pmc Autoimmune limbic encephalitis in 39 patients: immunophenotypes and outcomes
    L Bataller
    Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA
    J Neurol Neurosurg Psychiatry 78:381-5. 2007
    ..About 40% of patients with limbic encephalitis do not have detectable CNS antibodies. Some of these patients have immune-mediated limbic encephalitis, but their frequency is unknown...
  35. ncbi request reprint Connexin29 is uniquely distributed within myelinating glial cells of the central and peripheral nervous systems
    Bruce M Altevogt
    Department of Neurobiology, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Neurosci 22:6458-70. 2002
    ..Together, these data show that Cx29 and Cx32 are expressed by myelinating glial cells with distinct distributions...
  36. ncbi request reprint Autoimmune channelopathies and related neurological disorders
    Angela Vincent
    Neurosciences Group, Department of Clinical Neurology, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford OX3 9DS, United Kingdom
    Neuron 52:123-38. 2006
    ....
  37. ncbi request reprint Conus medulla-cauda compression from nerve root hypertrophy in a child with Dejerine-Sottas syndrome: improvement with laminectomy and duraplasty. Case report
    Kleopas A Kleopa
    Division of Neurology, The Children s Hospital of Philadelphia, Pennsylvania 19104, USA
    J Neurosurg 97:244-7. 2002
    ..Magnetic resonance imaging of the spine revealed nerve root hypertrophy resulting in compression of the conus medullaris and cauda equina. Decompressive surgery was successful in reversing some of his deficits...