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Prof Kailash Bhatia

Research Summary

My research interests are to firstly to delineate clinical phenotypes of different forms of movement disorders particularly in dystonia and parkinsonian conditions. We are able to provide clinical material for the finding of new genes for these disorders and to carry out phenotype-genotype correlations. Furthermore we research and define pathophysiological mechanisms of well characterised (genetically or otherwise) movement disorder conditions using transcranial magnetic stimulation (TMS) techniques to study central nervous system (CNS) physiology. An example of this is our published research in DYT1 gene related dystonia where we have firstly showed that both manifesting and non-manifesting carriers of this gene defect have CNS abnormalities detected by electrophysiology ( Different patterns of electrophysiological deficits in manifesting and non-manifesting carriers of the DYT1 gene mutation. Brain. 2003) and more recently using a special way of delivering repetitive TMS (Theta burst stimulation of the human motor cortex. Neuron. 2005) showed that dystonia brains may be too plastic (Abnormalities in motor cortical plasticity differentiate manifesting and non-manifesting DYT1 carriers. Mov Disord. 2006).
We have had a number of research papers on phenotype- genotype correlations for different movement disorders. Apart from dystonia and parkinsonism mentioned earlier some recent work includes Huntington disease look-alike conditions which are negative for the HD (IT15 gene) and we have published some work in this area (Phenotypic homogeneity of the Huntington disease-like presentation in a SCA17 family. Neurology. 2006; Huntington's disease phenocopies are clinically and genetically heterogeneous. Mov Disord. 2008) and on myoclonic disorders (The natural history of Unverricht-Lundborg disease: a report of eight genetically proven cases. Mov Disord. 2008). Based on phenotype- genotype correlations we have been to give guidelines on what to test these HD-like disorders (The Huntington's disease-like syndromes: what to consider in patients with a negative Huntington's disease gene test. Nat Clin Pract Neurol. 2007).
Our current interest is in defining endophenotypes for partially penetrant autosmal dominant genetic conditions of dystonia and parkinsonian families and we have done some work on this (Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia? Brain. 2007 ; Defective temporal discrimination of passive movements in Parkinson's disease. Neurosci Lett. 2007 ; Mental rotation of body parts and non-corporeal objects in patients with idiopathic cervical dystonia. Neuropsychologia. 2007) . Further work using these techniques to define carriers with endophenotype defects is being carried out in families with dystonia and parkinsonism.

Research Activities

  • A systematic investigation into the pathogenesis and course of Parkinson's syndrome
  • Genetic Influences on Treatment response in Moveme
  • Inflammatory conditions of the gastrointestinal tract
  • Neurological disease
  • Pathophysiology of Movement disorders

Recent Publications

Displaying 50 most recent publications. For the full list please visit UCL Discovery

  1. Schwingenschuh P,Saifee TA,Katschnig-Winter P,Reilly MM,Lunn MP,Manji H,Aguirregomozcorta M,Schmidt R,Bhatia KP,Rothwell JC,Edwards MJ (2013) Cerebellar learning distinguishes inflammatory neuropathy with and without tremor. Neurology, 80(20), 1867 - 1873. 10.1212/WNL.0b013e318292a2b8.
  2. Stamelou M,Edwards MJ,Bhatia KP (2013) Late onset rest-tremor in DYT1 dystonia. Parkinsonism Relat Disord, 19(1), 136 - 137. 10.1016/j.parkreldis.2012.05.026.
  3. Macerollo A,Bhatia KP (2013) FUS gene mutations cause essential tremor: a surprise but also confirms genetic heterogeneity of essential tremor. Mov Disord, 28(3), 290. 10.1002/mds.25376.
  4. Rubio-Agusti I,Carecchio M,Bhatia KP,Kojovic M,Parees I,Chandrashekar HS,Footitt EJ,Burke D,Edwards MJ,Lachmann RH,Murphy E (2013) Movement Disorders in Adult Patients With Classical Galactosemia. Mov Disord. 10.1002/mds.25348.
  5. Erro R,Quinn NP,Schneider SA,Bhatia KP (2013) Does rest tremor exclude the diagnosis of adult-onset primary dystonia? J Neurol Neurosurg Psychiatry, 84(6), 708. 10.1136/jnnp-2012-304779.
  6. Batla A,Stamelou M,Edwards MJ,Pareés I,Saifee TA,Fox Z,Bhatia KP (2013) Functional movement disorders are not uncommon in the elderly. Mov Disord, 28(4), 540 - 543. 10.1002/mds.25350.
  7. Armstrong MJ,Litvan I,Lang AE,Bak TH,Bhatia KP,Borroni B,Boxer AL,Dickson DW,Grossman M,Hallett M,Josephs KA,Kertesz A,Lee SE,Miller BL,Reich SG,Riley DE,Tolosa E,Tröster AI,Vidailhet M,Weiner WJ (2013) Criteria for the diagnosis of corticobasal degeneration. Neurology, 80(5), 496 - 503. 10.1212/WNL.0b013e31827f0fd1.
  8. Kägi G,Katschnig P,Fiorio M,Tinazzi M,Ruge D,Rothwell J,Bhatia KP (2013) Sensory tricks in primary cervical dystonia depend on visuotactile temporal discrimination. Mov Disord, 28(3), 356 - 361. 10.1002/mds.25305.
  9. Aguirregomozcorta M,Stamelou M,Antonini A,Schwingenschuh P,Prvulovich L,Edwards MJ,Dickson JC,Bhatia KP (2013) Patients with rest-tremor and scans with ipsilateral dopaminergic deficit. J Neurol, 260(4), 1132 - 1135. 10.1007/s00415-012-6774-1.
  10. Schneider SA,Bhatia KP (2013) Excess iron harms the brain: the syndromes of neurodegeneration with brain iron accumulation (NBIA) JOURNAL OF NEURAL TRANSMISSION, 120(4), 695 - 703. 10.1007/s00702-012-0922-8.
  11. Schrag AE,Mehta AR,Bhatia KP,Brown RJ,Frackowiak RS,Trimble MR,Ward NS,Rowe JB (2013) The functional neuroimaging correlates of psychogenic versus organic dystonia Brain, 136, 770 - 781. 10.1093/brain/awt008.
  12. Martino D,Gajos A,Gallo V,Cif L,Coubes P,Tinazzi M,Schneider SA,Fiorio M,Zorzi G,Nardocci N,Ben-Shlomo Y,Edwards MJ,Bhatia KP (2013) Extragenetic factors and clinical penetrance of DYT1 dystonia: an exploratory study JOURNAL OF NEUROLOGY, 260(4), 1081 - 1086. 10.1007/s00415-012-6765-2.
  13. Carecchio M,Magliozzi M,Copetti M,Ferraris A,Bernardini L,Bonetti M,Defazio G,Edwards MJ,Torrente I,Pellegrini F,Comi C,Bhatia KP,Valente EM (2013) Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: A reappraisal of genetic testing criteria. Mov Disord. 10.1002/mds.25506.
  14. Erro R,Bhatia KP,Catania S,Shields K,Cordivari C (2013) When the levator scapulae becomes a "rotator capitis": Implications for cervical dystonia. Parkinsonism Relat Disord, 19(7), 705 - 706. 10.1016/j.parkreldis.2013.03.012.
  15. Stamelou M,Cossu G,Edwards MJ,Murgia D,Pareés I,Melis M,Bhatia KP (2013) Familial psychogenic movement disorders. Mov Disord. 10.1002/mds.25463.
  16. Bhatia KP (2013) Commentary for "Progressive ataxia associated with scarring skin lesions and vertical gaze palsy". Mov Disord, 28(4), 445 - 446. 10.1002/mds.25466.
  17. Hoffland BS,Kassavetis P,Bologna M,Teo JT,Bhatia KP,Rothwell JC,Edwards MJ,van de Warrenburg BP (2013) Cerebellum-dependent associative learning deficits in primary dystonia are normalized by rTMS and practice. Eur J Neurosci. 10.1111/ejn.12186.
  18. Rubio-Agusti I,Pareés I,Kojovic M,Stamelou M,Saifee TA,Charlesworth G,Sheerin UM,Edwards MJ,Bhatia KP (2013) Tremulous cervical dystonia is likely to be familial: Clinical characteristics of a large cohort. Parkinsonism Relat Disord, 19(6), 634 - 638. 10.1016/j.parkreldis.2013.02.017.
  19. Schneider SA,Dusek P,Hardy J,Westenberger A,Jankovic J,Bhatia KP (2013) Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA) CURRENT NEUROPHARMACOLOGY, 11(1), 59 - 79.
  20. Edwards MJ,Lang AE,Bhatia KP (2013) Reply to Drs. Kurlan, Fasano, and Evans: A clinically useful definition of stereotypies. Mov Disord, 28(3), 405 - 406. 10.1002/mds.25253.
  21. Burke DG,Rahim AA,Waddington SN,Karlsson S,Enquist I,Bhatia K,Mehta A,Vellodi A,Heales S (2013) Erratum to: Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes. J Inherit Metab Dis. 10.1007/s10545-013-9599-x.
  22. Pareés I,Kassavetis P,Saifee TA,Sadnicka A,Davare M,Bhatia KP,Rothwell JC,Bestmann S,Edwards MJ (2013) Failure of explicit movement control in patients with functional motor symptoms. Mov Disord, 28(4), 517 - 523. 10.1002/mds.25287.
  23. Kojovic M,Pareés I,Lampreia T,Pienczk-Reclawowicz K,Xiromerisiou G,Rubio-Agusti I,Kramberger M,Carecchio M,Alazami AM,Brancati F,Slawek J,Pirtosek Z,Valente EM,Alkuraya FS,Edwards MJ,Bhatia KP (2013) The syndrome of deafness-dystonia: Clinical and genetic heterogeneity. Mov Disord. 10.1002/mds.25394.
  24. Batla A,Stamelou M,Mencacci N,Schapira AH,Bhatia KP (2013) Ropinirole monotherapy induced severe reversible dyskinesias in Parkinson's disease. Mov Disord. 10.1002/mds.25318.
  25. Sheerin UM,Stamelou M,Charlesworth G,Shiner T,Spacey S,Valente EM,Wood NW,Bhatia KP (2013) Migraine with aura as the predominant phenotype in a family with a PRRT2 mutation. J Neurol, 260(2), 656 - 660. 10.1007/s00415-012-6747-4.
  26. Filipovic SR,Bhatia KP,Rothwell JC (2013) 1-Hz repetitive transcranial magnetic stimulation and diphasic dyskinesia in Parkinson's disease MOVEMENT DISORDERS, 28(2), 245 - 246. 10.1002/mds.25261.
  27. Stamelou M,Edwards MJ,Hallett M,Bhatia KP (2012) The non-motor syndrome of primary dystonia: clinical and pathophysiological implications. Brain, 135(Pt 6), 1668 - 1681. 10.1093/brain/awr224.
  28. Shiner T,Seymour B,Symmonds M,Dayan P,Bhatia KP,Dolan RJ (2012) The effect of motivation on movement: a study of bradykinesia in Parkinson's disease. PLoS One, 7(10), e47138. 10.1371/journal.pone.0047138.
  29. Bhatia KP,Schneider SA (2012) Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesia. Mov Disord, 27(6), 707. 10.1002/mds.25038.
  30. Kojovic M,Kassavetis P,Bologna M,Berardelli A,Rothwell J,Edwards M,Bhatia K (2012) Functional Reorganisation in Sensorimotor Cortex Is a Compensatory Mechanism in Early Parkinson's Disease: A Six Months Follow-Up Study NEUROLOGY, 78.
  31. Depienne C,Bouteiller D,Meneret A,Billot S,Groppa S,Klebe S,Charbonnier-Beaupel F,Corvol J-C,Saraiva J-P,Brueggemann N,Bhatia K,Cincotta M,Brochard V,Flamand-Roze C,Carpentier W,Meunier S,Marie Y,Gaussen M,Stevanin G,Wehrle R,Vidailhet M,Klein C,Dusart I,Brice A,Roze E (2012) RAD51 Haploinsufficiency Causes Congenital Mirror Movements in Humans AMERICAN JOURNAL OF HUMAN GENETICS, 90(2), 301 - 307. 10.1016/j.ajhg.2011.12.002.
  32. Kojovic M,Bologna M,Kassavetis P,Murase N,Palomar FJ,Berardelli A,Rothwell JC,Edwards MJ,Bhatia KP (2012) Functional reorganization of sensorimotor cortex in early Parkinson disease. Neurology, 78(18), 1441 - 1448. 10.1212/WNL.0b013e318253d5dd.
  33. Kojovic M,Pareés I,Sadnicka A,Kassavetis P,Rubio-Agusti I,Saifee TA,Bologna M,Rothwell JC,Edwards MJ,Bhatia KP (2012) The brighter side of music in dystonia. Arch Neurol, 69(7), 917 - 919. 10.1001/archneurol.2012.33.
  34. Edwards MJ,Bhatia KP (2012) Functional (psychogenic) movement disorders: merging mind and brain. Lancet Neurol, 11(3), 250 - 260. 10.1016/S1474-4422(11)70310-6.
  35. Rubio-Agusti I,Kojovic M,Chandrashekar HS,Edwards MJ,Bhatia KP (2012) Cervical dystonia and joint hypermobility syndrome: a dangerous combination. Mov Disord, 27(2), 203 - 204. 10.1002/mds.24013.
  36. Edwards MJ,Lang AE,Bhatia KP (2012) Stereotypies: a critical appraisal and suggestion of a clinically useful definition. Mov Disord, 27(2), 179 - 185. 10.1002/mds.23994.
  37. Pareés I,Saifee TA,Kassavetis P,Kojovic M,Rubio-Agusti I,Rothwell JC,Bhatia KP,Edwards MJ (2012) Believing is perceiving: mismatch between self-report and actigraphy in psychogenic tremor. Brain, 135(Pt 1), 117 - 123. 10.1093/brain/awr292.
  38. Schneider SA,Hardy J,Bhatia KP (2012) Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations. Mov Disord, 27(1), 42 - 53. 10.1002/mds.23971.
  39. Stamelou M,Alonso-Canovas A,Bhatia K (2012) Dystonia in corticobasal degeneration: a review of the literature on 404 pathologically proven cases EUROPEAN JOURNAL OF NEUROLOGY, 19, 284 - 284.
  40. Rubio-Agusti I,Kojovic M,Edwards MJ,Chandrasehkar HS,Bhatia KP,Murphy E,Lachmann RH (2012) ATYPICAL PARKINSONISM AND CEREBROTENDINOUS XANTHOMATOSIS: REPORT OF A FAMILY WITH CORTICOBASAL SYNDROME AND LITERATURE REVIEW JOURNAL OF INHERITED METABOLIC DISEASE, 35, S24 - S24.
  41. Batla A,Kassavetis P,Parees I,Bhatia K,Edwards MJ (2012) Impaired initiation of voluntary contraction on a reaction time task may support the clinical diagnosis in fixed dystonia JOURNAL OF NEUROLOGY, 259, S17 - S17.
  42. Stamelou M,Mencacci NE,Cordivari C,Batla A,Wood NW,Houlden H,Hardy J,Bhatia KP (2012) Myoclonus-dystonia syndrome due to tyrosine hydroxylase deficiency. Neurology, 79(5), 435 - 441. 10.1212/WNL.0b013e318261714a.
  43. Saifee TA,Schwingenschuh P,Reilly MM,Lunn MP,Katschnig P,Kassavetis P,Pareés I,Manji H,Bhatia K,Rothwell JC,Edwards MJ (2012) Tremor in inflammatory neuropathies. J Neurol Neurosurg Psychiatry. 10.1136/jnnp-2012-303013.
  44. Massano J,Bhatia KP (2012) Clinical approach to Parkinson's disease: features, diagnosis, and principles of management. Cold Spring Harb Perspect Med, 2(6), a008870. 10.1101/cshperspect.a008870.
  45. Kojovic M,Sheerin U,Rubio-Agusti I,Bras J,Wood N,Houlden H,Hardy J,Bhatia K (2012) Young Onset Parkinson's Disease Due to Homozygous Duplication of SNCA in a Consanguineous Family from Pakistan NEUROLOGY, 78.
  46. Stamelou M,Alonso-Canovas A,Bhatia KP (2012) Dystonia in corticobasal degeneration: a review of the literature on 404 pathologically proven cases. Mov Disord, 27(6), 696 - 702. 10.1002/mds.24992.
  47. Kassavetis P,Batla A,Pareés I,Saifee TA,Schrag A,Cordivari C,Bhatia KP,Edwards MJ (2012) Joint hypermobility syndrome: a risk factor for fixed dystonia? Mov Disord, 27(8), 1070. 10.1002/mds.25004.
  48. Donaldson I,Marsden CD,Schneider S,Bhatia K (2012) Marsden's Book of Movement Disorders.
  49. Shiner T,Seymour B,Wunderlich K,Hill C,Bhatia KP,Dayan P,Dolan RJ (2012) Dopamine and performance in a reinforcement learning task: evidence from Parkinson's disease. Brain, 135(Pt 6), 1871 - 1883. 10.1093/brain/aws083.
  50. Stamelou M,Saifee TA,Edwards MJ,Bhatia KP (2012) Psychogenic palatal tremor may be underrecognized: reappraisal of a large series of cases. Mov Disord, 27(9), 1164 - 1168. 10.1002/mds.24948.

Qualifications

  • 1988: Doctor of Medicine, University of Bombay
  • 1986: Doctor of Medicine, University of Bombay
  • 1982: Bachelor of Medicine/Bachelor of Surgery, University of Bombay

Keywords

  • BDNF
  • Cerebellum
  • Deep brain stimulation
  • Dystonia
  • FMRI
  • Fragile X syndrome
  • Genetics
  • Genetics
  • Human movement disorders
  • Huntington's disease
  • Movement disorders
  • Multiple system atrophy
  • Myoclonus
  • Neurodegeneration
  • Parkinson's disease
  • Parkinson's disease
  • Progressive Supranuclear Palsy
  • Shy-Drager syndrome
  • Synaptic plasticity
  • Tourette syndrome
  • Transcranial Magnetic Stimulation (TMS)
  • dystonia Electrophysiology