Research Topics
Genomes and GenesSpecies | K P BhatiaSummaryAffiliation: University College London Country: UK Publications
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Publications
The non-motor syndrome of primary dystonia: clinical and pathophysiological implicationsMaria Stamelou
Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology Queen Square, London, WC1N 3BG UK
Brain 135:1668-81. 2012..Here, we review this evidence and discuss its clinical and pathophysiological implications...- Functional reorganization of sensorimotor cortex in early Parkinson diseaseM Kojovic
Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London, UK
Neurology 78:1441-8. 2012..Here we sought evidence that compensation may be a part of a more widespread functional reorganization in sensorimotor networks, including primary motor cortex... 
Paroxysmal dyskinesiasKailash P Bhatia
Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square, London, United Kingdom
Mov Disord 26:1157-65. 2011..Potassium and calcium channel mutations underlie the 2 main forms of episodic ataxia (EA1 and EA2), whereas benign torticollis of infancy may also be a calcium channel disorder...
Spontaneously changing muscular activation pattern in patients with cervical dystoniaA Munchau
MRC Human Movement and Balance Unit, University College London, United Kingdom
Mov Disord 16:1091-7. 2001..This should be considered when BT treatment response is unsatisfactory, and should also be taken into account when interpreting results of EMG recordings of neck muscles in these patients...- The blink reflex recovery cycle differs between essential and presumed psychogenic blepharospasmP Schwingenschuh
UCL Institute of Neurology, London WC1N 3BG, UK
Neurology 76:610-4. 2011..The blink reflex recovery cycle measures the excitability of human brainstem interneurons and is abnormal in BEB. We wished to study the blink reflex recovery cycle in patients with atypical (presumed psychogenic) blepharospasm (AB)... - THAP1 mutations (DYT6) are an additional cause of early-onset dystoniaH Houlden
University College London Institute of Neurology, Queen Square, London WC1N 3BG, England
Neurology 74:846-50. 2010..The clinical phenotype of DYT6 consists mainly of primary craniocervical dystonia. Recently, the THAP1 gene was identified as the cause of DYT6, where a total of 13 mutations have been identified in Amish-Mennonite and European families... - Neurophysiological evidence for cerebellar dysfunction in primary focal dystoniaJ T H Teo
Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London WC1N 3BG, UK
J Neurol Neurosurg Psychiatry 80:80-3. 2009..Further work needs to be done to determine if these changes are primary, secondary or epiphenomenal to the disease... - BDNF val66met influences time to onset of levodopa induced dyskinesia in Parkinson's diseaseT Foltynie
Cambridge Centre for Brain Repair, Cambridge, UK
J Neurol Neurosurg Psychiatry 80:141-4. 2009..There is accumulating evidence that LID develop due to abnormal synaptic plasticity, which is in turn influenced by the release of brain derived neurotrophic factor (BDNF)... - Neuropathology of primary adult-onset dystoniaJ L Holton
Queen Square Brain Bank, Department of Molecular Neuroscience, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK
Neurology 70:695-9. 2008..However, it was unclear whether these changes are characteristic of these particular disorders or an epiphenomenon of dystonic conditions in general... - Effect of electrode contact location on clinical efficacy of pallidal deep brain stimulation in primary generalised dystoniaS Tisch
Unit of Functional Neurosurgery, Sobell Department, Institute of Neurology, University College London, Box 146, 8 11 Queen Square, London WC1N 3BG, UK
J Neurol Neurosurg Psychiatry 78:1314-9. 2007..To determine the effect of electrode contact location on efficacy of bilateral globus pallidus internus (GPi) deep brain stimulation (DBS) for primary generalised dystonia (PGD). Subjects and.. - Prospective study of selective peripheral denervation for botulinum-toxin resistant patients with cervical dystoniaA Munchau
University Department of Clinical Neurology, Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, UK
Brain 124:769-83. 2001..Reinnervation is not infrequent and can compromise outcome. Postoperative morbidity is low, but there is a risk of dysphagia... - Patterns of EMG-EMG coherence in limb dystoniaPascal Grosse
Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, London, United Kingdom
Mov Disord 19:758-69. 2004..We conclude that the nature of the abnormal drive to dystonic muscles may vary according to the muscles under consideration and, particularly, with aetiology... - Polymyography combined with time-locked video recording (video EMG) for presurgical assessment of patients with cervical dystoniaA Munchau
University Department of Clinical Neurology, Institute of Neurology, University College London, London, UK
Eur Neurol 45:222-8. 2001..Video EMG allows an integrated approach to identify overactive neck muscles in patients with cervical dystonia taking into account both relevant clinical findings and EMG data... - Prospective study of swallowing function in patients with cervical dystonia undergoing selective peripheral denervationA Munchau
University Department of Clinical Neurology, Institute of Neurology, National Hospital for Neurology and Neurosurgery, University College London, Queen Square, London WC1N 3BG, UK
J Neurol Neurosurg Psychiatry 71:67-72. 2001..To characterise swallowing function in patients with cervical dystonia with botulinum toxin treatment failure, before and after selective peripheral denervation surgery... - Genotype-phenotype interactions in primary dystonias revealed by differential changes in brain structureB Draganski
Wellcome Trust Centre for Neuroimaging, Institute of Neurology, UCL, UK
Neuroimage 47:1141-7. 2009..Alternatively, a DYT1 gene dependent primary defect of motor circuit development may lead to stress-induced remodelling of the basal ganglia and hence dystonia... - Familial dopa-responsive cervical dystoniaS A Schneider
Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, UK
Neurology 66:599-601. 2006..These cases may represent new forms of dopa-responsive dystonia. Levodopa is advisable in all patients with young-onset cervical dystonia... - Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patientsI Trender-Gerhard
Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, Queen Square, London WC1N 3BG, UK
J Neurol Neurosurg Psychiatry 80:839-45. 2009..However, a number of clinical issues remain unresolved including phenotypic variability, long-term response to levodopa and associated non-motor symptoms, and there are limited data on long-term follow-up of genetically proven cases... - Phenotypic homogeneity of the Huntington disease-like presentation in a SCA17 familyS A Schneider
Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, UK
Neurology 67:1701-3. 2006..However, SCA17 HDL presentation has been observed only sporadically or in solitary individuals within a family. HDL phenotypic homogeneity in SCA17 has not been described. SCA17 can present with a HDL syndrome in multiple family members... - Severe tongue protrusion dystonia: clinical syndromes and possible treatmentS A Schneider
Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London WC1N 3BG, UK
Neurology 67:940-3. 2006..Tongue protrusion dystonia is often unresponsive to oral drugs but may benefit from botulinum toxin injections into the genioglossus muscle. Bilateral deep brain pallidal stimulation was beneficial in two cases... - Changes in forearm reciprocal inhibition following pallidal stimulation for dystoniaS Tisch
obell Department Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square London, United Kingdom
Neurology 66:1091-3. 2006..The authors conclude that pallidal DBS for dystonia results in functional reorganization of the nervous system, which includes a long-term increase in spinal inhibition... - Physiological studies in carriers of the DYT1 gene mutationJ C Rothwell
Sobell Department, Institute of Neurology, London, UK
Rev Neurol (Paris) 159:880-4. 2003..Non-manifesting cases had some but not all of these defects, suggesting that additional genetic or environmental factors may be needed to produce the full range of physiological deficiencies needed to give rise to clinical symptoms... - Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1AP Imbrici
Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, United Kingdom
Neurology 65:944-6. 2005..Molecular expression revealed evidence of impaired calcium channel function, suggesting that genetically induced reduction in calcium channel function may associate with cases of late-onset EA2... - Autosomal dominant cerebellar ataxia: SCA2 is the most frequent mutation in eastern IndiaK K Sinha
Department of Clinical Neurology, Institute of Neurology, Queen Square, London WC1N 3BG, UK
J Neurol Neurosurg Psychiatry 75:448-52. 2004.... - Arm tremor in cervical dystonia differs from essential tremor and can be classified by onset age and spread of symptomsA Munchau
Sobell Department of Neurophysiology, University College London, London, UK
Brain 124:1765-76. 2001..These groups do not correspond to the currently proposed clinical subdivision of 'dystonic tremor' and 'tremor associated with dystonia'... - The prognosis of fixed dystonia: a follow-up studyN M Ibrahim
Department of Motor Neurosciences and Movement Disorders, Institute of Neurology, University College London, UK
Parkinsonism Relat Disord 15:592-7. 2009..The syndrome of fixed dystonia includes both CRPS-dystonia and psychogenic dystonia. The underlying mechanisms are unclear, but a high prevalence of neuropsychiatric illness has previously been reported... - Familial (idiopathic) paroxysmal dyskinesias: an updateK P Bhatia
Department of Clinical Neurology, Institute of Neurology, University College London, United Kingdom
Semin Neurol 21:69-74. 2001..However, another family with ADNFLE has been linked to chromosome 15 in the area of another nicotinic acetylcholine receptor gene. Thus the familial paroxysmal dyskinesias appear to be clinically and genetically heterogeneous... - Olfaction differentiates parkin disease from early-onset parkinsonism and Parkinson diseaseN L Khan
Department of Molecular Neurosciences, Institute of Neurology, London School of Hygiene and Tropical Medicine, University College London, UK
Neurology 62:1224-6. 2004..3; 95% CI 12.2 to 19.5; p < 0.0001) and the parkin-negative group (mean 17.1; 95% CI 14.8 to 16.3; p < 0.0001) values. Parkin disease may be a distinct and separate entity from Parkinson disease... - A dystonic syndrome associated with anti-basal ganglia antibodiesM J Edwards
Sobell Department of Movement Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
J Neurol Neurosurg Psychiatry 75:914-6. 2004..It is hypothesised that dystonia in adults or adolescents may be part of the clinical spectrum of the post-infectious syndrome associated with ABGA... - A polymorphism in the dopamine receptor DRD5 is associated with blepharospasmA Misbahuddin
Department of Clinical Neurosciences, Royal Free and University College Medical School, London, UK
Neurology 58:124-6. 2002..Allele 2 of a DRD5 dinucleotide repeat was significantly associated with blepharospasm. This may indicate a pathogenic role for this receptor... - Olfaction in patients with suspected parkinsonism and scans without evidence of dopaminergic deficit (SWEDDs)L Silveira-Moriyama
Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London WC1N 1PJ, UK
J Neurol Neurosurg Psychiatry 80:744-8. 2009..More than 10% of patients diagnosed as early PD can have scans without evidence of dopaminergic deficiency (SWEDDs). This study investigated whether smell tests can help identify possible cases with SWEDDs... - Quality of life in patients with orthostatic tremorW Gerschlager
Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, WC1N 3BG, UK
J Neurol 250:212-5. 2003..The BDI score correlated significantly with several SF-36 subscores. We conclude that OT strongly impacts on QoL. The results highlight the importance of recognizing and treating depression in patients with OT... - Young onset limb spasticity with PSP-like brain and spinal cord NFT-tau pathologyS Papapetropoulos
Sobell Department of Movement Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square, London, United Kingdom
Neurology 64:731-3. 2005..Eight years later, postmortem revealed a tauopathy similar to progressive supranuclear palsy. Unusual aspects were early age at onset, neurofibrillary tangle, and tau involvement of the cord... - The role of DAT-SPECT in movement disordersG Kägi
Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, National Hospital for Neurology and Neurosurgery, London, UK
J Neurol Neurosurg Psychiatry 81:5-12. 2010..This review addresses the value of DAT-SPECT and its impact on diagnostic accuracy in movement disorders presenting with tremor and/or parkinsonism... - Secondary dystonia--clinical clues and syndromic associationsS A Schneider
Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square, London, UK
Eur J Neurol 17:52-7. 2010..In this article, we point out some clinical clues and syndromic associations which may be helpful in the approach to a patient with dystonia... - Anti-basal ganglia antibodies in patients with atypical dystonia and tics: a prospective studyM J Edwards
Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, Queen Square, London, UK
Neurology 63:156-8. 2004..An autoimmune mechanism may underlie a proportion of cases of atypical movement disorders... - Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotypeH Houlden
Neurogenetics, Clinical Neurology and Dementia Research Group, Institute of Neurology, London
Neurology 56:1702-6. 2001..05 > CI 95% > 1.85]). CONCLUSIONS: The CBD tau association described here suggests that PSP and CBD share a similar cause, although the pathogenic mechanism behind the two diseases leads to a different clinical and pathologic phenotype... - Familial adult onset of Krabbe's disease resembling hereditary spastic paraplegia with normal neuroimagingN P S Bajaj
Department of Clinical Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1, UK
J Neurol Neurosurg Psychiatry 72:635-8. 2002..A neurological phenotype is present in heterozygotes and the family shows the extent of homozygotic phenotypic diversity that can be seen in this disorder... - Dopaminergic dysfunction in unrelated, asymptomatic carriers of a single parkin mutationN L Khan
MRC Clinical Sciences Centre, and Division of Neuroscience, Faculty of Medicine, Imperial College, Hammersmith Hospital, London, UK
Neurology 64:134-6. 2005..Four had subtle extrapyramidal signs. Parkin heterozygosity is a risk factor for nigrostriatal dysfunction and in some may contribute to late-onset Parkinson disease...