![Kathryn Peall](https://profiles-cardiff.imgix.net/attachments/5117?w=200&h=200&auto=format&crop=faces&fit=crop&q=90")
Professor Kathryn Peall
- Welsh speaking
- Available for postgraduate supervision
Teams and roles for Kathryn Peall
Personal Chair, Division of Psychological Medicine and Clinical Neurosciences
Overview
We are interested in the aetiology and pathophysiological mechanisms that underpin movement disorders, particularly childhood- and adult-onset Dystonia. We are using a combination of epidemiology, imaging, invertebrate and cellular models to gain insight into these disorders, why they occur and the pathways that are likely disrupted. We hope that a more detailed understanding of these mechanisms will help in the development of future novel therapies.
My work is support by the Medical Research Council (Clinician-Scientist Fellowship), the Dystonia Medical Research Foundation, The Dystonia Society and the Life Sciences Research Network Wales.
Publication
2025
- Schalkamp, A., Peall, K. J., Harrison, N. A., Escott-Price, V., Barnaghi, P. and Sandor, C. 2025. Wearables-derived risk score for unintrusive detection of α-synuclein aggregation or dopaminergic deficit. EBioMedicine 117, article number: 105782. (10.1016/j.ebiom.2025.105782)
- Martino, D. et al. 2025. Diagnostic accuracy of screening tools for depression and anxiety in cervical dystonia. Parkinsonism & Related Disorders 136, article number: 107891. (10.1016/j.parkreldis.2025.107891)
- Li, Z., Abram, L., Cruz Santos, M., Petter, O. and Peall, K. J. 2025. Transcriptomic disruption and hypoactivity in DYT-SGCE medial ganglionic eminence-patterned inhibitory neurons. Brain, article number: awaf272. (10.1093/brain/awaf272)
- Barker, R. A. et al. 2025. The TransEuro open-label trial of human fetal ventral mesencephalic transplantation in patients with moderate Parkinson's disease.. Nature Biotechnology (10.1038/s41587-025-02567-2)
2024
- Li, Z., Abram, L. and Peall, K. 2024. Deciphering the pathophysiological mechanisms underpinning myoclonus dystonia using pluripotent stem cell-derived cellular models. Cells 13(18), article number: 1520. (10.3390/cells13181520)
- MacIver, C. L., Jones, D., Green, K., Szewczyk-Krolikowski, K., Doring, A., Tax, C. M. and Peall, K. J. 2024. White matter microstructural changes using ultra-strong diffusion gradient MRI in adult-onset idiopathic focal cervical dystonia. Neurology 103(4), article number: e209695. (10.1212/WNL.0000000000209695)
- Bailey, G., Rawlings, A., Torabi, F., Pickrell, W. O. and Peall, K. 2024. Prevalence and temporal relationship of clinical co-morbidities in idiopathic dystonia: A UK linkage-based study. Journal of Neurology 271, pp. 3398-3408. (10.1007/s00415-024-12284-6)
- Schalkamp, A., Harrison, N. A., Peall, K. J. and Sandor, C. 2024. Digital outcome measures from smartwatch data relate to non-motor features of Parkinson’s disease. npj Parkinson's Disease 10(1), article number: 110. (10.1038/s41531-024-00719-w)
- Green, K., MacIver, C. L., Ebden, S., Rees, D. A. and Peall, K. J. 2024. Pearls and Oy-sters: AARS2 leukodystrophy – tremor and tribulations. Neurology 102(8) (10.1212/WNL.0000000000209296)
- Peall, K. J., Owen, M. J. and Hall, J. 2024. Rare genetic brain disorders with overlapping neurological and psychiatric phenotypes. Nature Reviews Neurology 20(1), pp. 7-21. (10.1038/s41582-023-00896-x)
- Peall, K., Owen, M. and Hall, J. 2024. Rare genetic brain disorders with overlapping neurological and psychiatric phenotypes. Nature Reviews Neurology 20, pp. 7-21. (10.1038/s41582-023-00896-x)
2023
- MacIver, C. et al. 2023. Macro- and micro-structural Insights into primary dystonia A UK Biobank study. Journal of Neurology (10.1007/s00415-023-12086-2)
- Peall, K. et al. 2023. Non-motor symptoms in Dystonia: From diagnosis to treatment. Dystonia 2, article number: 11860. (10.3389/dyst.2023.11860)
- Bailey, G., Wadon, M., Komarzynski, S., Matthews, C., Haf Davies, E. and Peall, K. 2023. Accelerometer-derived sleep measures in idiopathic dystonia: A UK Biobank cohort study. Brain and Behavior 13(9), article number: e2933. (10.1002/brb3.2933)
- Schalkamp, A., Peall, K. J., Harrison, N. A. and Sandor, C. 2023. Wearable movement-tracking data identify Parkinson's disease years before clinical diagnosis. Nature Medicine 29, pp. 2048-2056. (10.1038/s41591-023-02440-2)
- Sperandeo, A. et al. 2023. Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia. Brain 146(4), pp. 1523-1541. (10.1093/brain/awac365)
- Tax, C. M. W. et al. 2023. Ultra-strong diffusion-weighted MRI reveals cerebellar grey matter abnormalities in movement disorders. NeuroImage: Clinical 38, article number: 103419. (10.1016/j.nicl.2023.103419)
- Bailey, G., Matthews, C., Szewczyk-krolikowski, K., Moore, P., Komarzynski, S., Haf Davies, E. and Peall, K. 2023. Use of remote monitoring and integrated platform for the evaluation of sleep quality in adult-onset idiopathic cervical dystonia. Journal of Neurology 270, pp. 1759-1769. (10.1007/s00415-022-11490-4)
2022
- Bailey, G. A., Rawlings, A., Torabi, F., Pickrell, W. O. and Peall, K. J. 2022. Longitudinal analysis of the relationship between motor and psychiatric symptoms in idiopathic dystonia. European Journal of Neurology 29(12), pp. 3513-3527. (10.1111/ene.15530)
- Wadon, M., Fenner, E., Kendall, K., Bailey, G., Sandor, C., Rees, E. and Peall, K. J. 2022. Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study. Journal of Neurology 269, pp. 6436-6451. (10.1007/s00415-022-11307-4)
- Bailey, G. A., Martin, E. and Peall, K. J. 2022. Cognitive and neuropsychiatric impairment in dystonia. Current Neurology and Neuroscience Reports 22, pp. 699-708. (10.1007/s11910-022-01233-3)
- Pérez-Dueñas, B. et al. 2022. The genetic landscape of complex childhood-onset hyperkinetic movement disorders. Movement Disorders 37(11), pp. 2197-2209. (10.1002/mds.29182)
- MacIver, C. L., Tax, C. M. W., Jones, D. K. and Peall, K. J. 2022. Structural magnetic resonance imaging in dystonia: A systematic review of methodological approaches and findings. European Journal of Neurology 29(11), pp. 3418-3448. (10.1111/ene.15483)
- Bailey, G., Rawlings, A., Torabi, F., Pickrell, O. and Peall, K. 2022. Adult-onset idiopathic dystonia: a national data-linkage study to determine epidemiological, social deprivation and mortality characteristics. European Journal of Neurology 29(1), pp. 91-104. (10.1111/ene.15114)
2021
- MacIver, C. and Peall, K. 2021. Contribution of multi-modal imaging to our understanding of dystonia pathogenesis. Journal of Neurology 268(8), pp. 3043-3045. (10.1007/s00415-021-10696-2)
- Bailey, G. A., Hubbard, E. K., Fasano, A., Tijssen, M. A. J., Lynch, T., Anderson, K. N. and Peall, K. P. 2021. Sleep disturbance in movement disorders – insights, treatments and challenges. Journal of Neurology, Neurosurgery and Psychiatry 92(7), pp. 723-736. (10.1136/jnnp-2020-325546)
- Wadon, M., MacIver, C., Winter, M. and Peall, K. 2021. Internet-based cognitive behavioural therapy as a feasible treatment of adult-onset, focal, isolated, idiopathic cervical dystonia. Clinical Parkinsonism & Related Disorders 5, article number: 100121. (10.1016/j.prdoa.2021.100121)
2020
- Steel, D. et al. 2020. Loss‐of‐function variants in HOPS complex genes VPS16 and VPS41 cause early‐onset dystonia associated with lysosomal abnormalities. Annals of Neurology 88(5), pp. 867-877. (10.1002/ana.25879)
- Young, C. and Peall, K. J. 2020. Reply to comment on: Management of Parkinson’s disease during pregnancy: literature review and multi-disciplinary input. Movement Disorders Clinical Practice 7(7), pp. 882-882. (10.1002/mdc3.13047)
- Fearon, C., Peall, K. J., Vidailhe, M. and Fasano, A. 2020. Medical management of myoclonus-dystonia and implications for underlying pathophysiology. Parkinsonism and Related Disorders 77, pp. 48-56. (10.1016/j.parkreldis.2020.06.016)
- Cunningham, A., Fung, W., Massey, T., Hall, J., Owen, M., Van Den Bree, M. and Peall, K. 2020. Movement disorder phenotypes in children with 22q11.2 deletion syndrome. Movement Disorders 35(7), pp. 1272-1274. (10.1002/mds.28078)
- Wadon, M. E., Winter, M. and Peall, K. J. 2020. Internet-based cognitive behavioural therapy programme as an intervention for people diagnosed with adult-onset, focal, isolated, idiopathic cervical dystonia: a feasibility study protocol. Pilot and Feasibility Studies 6, article number: 100. (10.1186/s40814-020-00641-x)
- Eggink, H. et al. 2020. The effectiveness of deep brain stimulation in dystonia: a patient-centered approach. Tremor and Other Hyperkinetic Movements 10, article number: 2. (10.5334/tohm.69)
- Timmers, E. R. et al. 2020. Natural course of Myoclonus-Dystonia in adulthood: stable motor signs but increased psychiatry. Movement Disorders 35(6), pp. 1077-1078. (10.1002/mds.28033)
- Young, C., Phillips, R., Ebenezer, L., Zutt, R. and Peall, K. 2020. Management of Parkinson’s Disease during pregnancy: literature review and multi-disciplinary input. Movement Disorders Clinical Practice 7(4), pp. 419-430. (10.1002/mdc3.12925)
2019
- Jones, L. et al. 2019. A case of treatment resistance and complications in a patient with stiff person syndrome and cerebellar ataxia. Tremor and Other Hyperkinetic Movements 9 (10.7916/tohm.v0.677)
- Barker, R. A. et al. 2019. Designing stem-cell-based dopamine cell replacement trials for Parkinson's disease. Nature Medicine 25(7), pp. 1045-1053. (10.1038/s41591-019-0507-2)
- Cunningham, A. et al. 2019. Using kinematic analyses to explore sensorimotor control impairments in children with 22q11.2 deletion Syndrome. Journal of Neurodevelopmental Disorders 11, article number: 8. (10.1186/s11689-019-9271-3)
- Fung, W. K. W. and Peall, K. J. 2019. What is the role of the cerebellum in the pathophysiology of dystonia?. Journal of Neurology 266(6), pp. 1549 -1551. (10.1007/s00415-019-09344-7)
- Egmond, M. E. et al. 2019. Variable interpretation of the dystonia consensus classification items compromises its solidity. Movement Disorders 34(3), pp. 317-320. (10.1002/mds.27627)
- Alakbarzade, V. et al. 2019. Copy number variation of LINGO1 in familial dystonic tremor. Neurology Genetics 5(1), article number: e307. (10.1212/NXG.0000000000000307)
- Eggink, H. et al. 2019. Motor and non-motor determinants of health-related quality of life in young dystonia patients. Parkinsonism & Related Disorders 58, pp. 50-55. (10.1016/j.parkreldis.2018.08.008)
2018
- Fung, W. and Peall, K. J. 2018. Does 22q11.2 deletion syndrome contribute to the genetic aetiology of Parkinson's disease?. Journal of Neurology 265(10), pp. 2463-2465. (10.1007/s00415-018-9046-x)
- Zutt, R. et al. 2018. Electrophysiologic testing aids diagnosis and subtyping of myoclonus. Neurology 90(8), pp. e647-e657. (10.1212/WNL.0000000000004996)
2017
- Peall, K. et al. 2017. Low CSF 5-HIAA in myoclonus dystonia. Movement Disorders 32(11), pp. 1647-1649. (10.1002/mds.27117)
- Peall, K. J., Lorentzos, M., Heyman, I., Tijssen, M., Owen, M. J., Dale, R. and Kurian, M. 2017. A review of psychiatric co-morbidity described in genetic and immune mediated movement disorders. Neuroscience & Biobehavioral Reviews 80, pp. 23-35. (10.1016/j.neubiorev.2017.05.014)
- van de Zande, N. A. et al. 2017. Clinical characterization of dystonia in adult patients with Huntington's disease. European Journal of Neurology 24(9), pp. 1140-1147. (10.1111/ene.13349)
- van Egmond, M. E. et al. 2017. A post hoc study on gene panel analysis for the diagnosis of dystonia. Movement Disorders -New York- 32(4), pp. 569-575. (10.1002/mds.26937)
- Robertson, N. and Peall, K. J. 2017. Dystonia: opportunities to gain insights into underlying pathophysiological mechanisms. Journal of Neurology 264(3), pp. 616-618. (10.1007/s00415-017-8411-5)
- Meyer, E. et al. 2017. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nature Genetics 49, pp. 223-237. (10.1038/ng.3740)
2016
- Peall, K. J. and Robertson, N. 2016. Idiopathic rapid eye movement sleep behaviour disorder: a potential gateway to the development of disease-modifying treatments in neurodegenerative disorders. Journal of Neurology 263(8), pp. 1678-1680. (10.1007/s00415-016-8235-8)
- Massey, T., Pickersgill, T. T. and Peall, K. J. 2016. Nitrous oxide misuse and vitamin B12 deficiency. BMJ Case Reports, article number: 215728. (10.1136/bcr-2016-215728)
- Zutt, R., Dijk, J. M., Peall, K. J., Speelman, H., Dreissen, Y. E. M., Contarino, M. F. and Tijssen, M. A. J. 2016. Distribution and coexistence of myoclonus and dystonia as clinical predictors of SGCE mutation status: a pilot study. Frontiers in Neurology 7, article number: 72. (10.3389/fneur.2016.00072)
- Peall, K. J. et al. 2016. Psychiatric disorders, myoclonus dystonia and SGCE: an international study. Annals of Clinical and Translational Neurology 3(1), pp. 4-11. (10.1002/acn3.263)
2015
- Peall, K. J. and Robertson, N. 2015. Biomarkers in Alzheimer's Disease: understanding disease trajectory and therapeutic targets. Journal of Neurology 262(9), pp. 2195-2197. (10.1007/s00415-015-7881-6)
- Peall, K. J., Kuiper, A., de Koning, T. and Tijssen, M. 2015. Non-motor symptoms in genetically defined dystonia: homogenous groups require systematic assessment. Parkinsonism & Related Disorders 21(9), pp. 1031-1040. (10.1016/j.parkreldis.2015.07.003)
- Peall, K. and Kurian, M. 2015. Benign hereditary chorea: an update. Tremor and Other Hyperkinet Movements 2015, article number: 3. (10.7916/D8RJ4HM5)
- Mencacci, N. et al. 2015. A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystoniaa. American Journal of Human Genetics 96(6), pp. 938-947. (10.1016/j.ajhg.2015.04.008)
2014
- Peall, K. J. et al. 2014. SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype. Journal of Neurology 261(12), pp. 2296-2304. (10.1007/s00415-014-7488-3)
- Peall, K. 2014. Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning. Orphanet Journal of Rare Diseases 9, article number: 177. (10.1186/s13023-014-0177-6)
- Peall, K. J. and Robertson, N. 2014. Narcolepsy: environment, genes and treatment. Journal of Neurology 261(8), pp. 1644-1646. (10.1007/s00415-014-7435-3)
- Peall, K. J. et al. 2014. Benign hereditary chorea related toNKX2.1: expansion of the genotypic and phenotypic spectrum. Developmental Medicine and Child Neurology 56(7), pp. 642-6488. (10.1111/dmcn.12323)
- Peall, K. J. et al. 2014. SGCZ mutations are unlikely to be associated with myoclonus dystonia. Neuroscience 272, pp. 88-91. (10.1016/j.neuroscience.2014.04.034)
2013
- Peall, K. J. et al. 2013. SGCE mutations cause psychiatric disorders: clinical and genetic characterization. Brain 136(1), pp. 294-303. (10.1093/brain/aws308)
- Peall, K. J. and Robertson, N. 2013. Parkinsonism, dementia and glucocerebrosidase mutations. Journal of Neurology 260(5), pp. 1441-1444. (10.1007/s00415-013-6923-1)
2012
- Peall, K. J. et al. 2012. Myoclonus dystonia syndrome: SGCE mutations and psychiatric disease [Abstract]. Journal of Neurology 259, pp. S30-S30.
- Peall, K. J. 2012. Clinical and genetic investigation of the epsilon-sarcoglycan complex in neurologic and psychiatric disease. PhD Thesis, Cardiff University.
2011
- Peall, K. J., Waite, A. J., Blake, D. J., Owen, M. J. and Morris, H. R. 2011. Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic review. Movement Disorders 26(10), pp. 1939-1942. (10.1002/mds.23791)
Articles
- Schalkamp, A., Peall, K. J., Harrison, N. A., Escott-Price, V., Barnaghi, P. and Sandor, C. 2025. Wearables-derived risk score for unintrusive detection of α-synuclein aggregation or dopaminergic deficit. EBioMedicine 117, article number: 105782. (10.1016/j.ebiom.2025.105782)
- Martino, D. et al. 2025. Diagnostic accuracy of screening tools for depression and anxiety in cervical dystonia. Parkinsonism & Related Disorders 136, article number: 107891. (10.1016/j.parkreldis.2025.107891)
- Li, Z., Abram, L., Cruz Santos, M., Petter, O. and Peall, K. J. 2025. Transcriptomic disruption and hypoactivity in DYT-SGCE medial ganglionic eminence-patterned inhibitory neurons. Brain, article number: awaf272. (10.1093/brain/awaf272)
- Barker, R. A. et al. 2025. The TransEuro open-label trial of human fetal ventral mesencephalic transplantation in patients with moderate Parkinson's disease.. Nature Biotechnology (10.1038/s41587-025-02567-2)
- Li, Z., Abram, L. and Peall, K. 2024. Deciphering the pathophysiological mechanisms underpinning myoclonus dystonia using pluripotent stem cell-derived cellular models. Cells 13(18), article number: 1520. (10.3390/cells13181520)
- MacIver, C. L., Jones, D., Green, K., Szewczyk-Krolikowski, K., Doring, A., Tax, C. M. and Peall, K. J. 2024. White matter microstructural changes using ultra-strong diffusion gradient MRI in adult-onset idiopathic focal cervical dystonia. Neurology 103(4), article number: e209695. (10.1212/WNL.0000000000209695)
- Bailey, G., Rawlings, A., Torabi, F., Pickrell, W. O. and Peall, K. 2024. Prevalence and temporal relationship of clinical co-morbidities in idiopathic dystonia: A UK linkage-based study. Journal of Neurology 271, pp. 3398-3408. (10.1007/s00415-024-12284-6)
- Schalkamp, A., Harrison, N. A., Peall, K. J. and Sandor, C. 2024. Digital outcome measures from smartwatch data relate to non-motor features of Parkinson’s disease. npj Parkinson's Disease 10(1), article number: 110. (10.1038/s41531-024-00719-w)
- Green, K., MacIver, C. L., Ebden, S., Rees, D. A. and Peall, K. J. 2024. Pearls and Oy-sters: AARS2 leukodystrophy – tremor and tribulations. Neurology 102(8) (10.1212/WNL.0000000000209296)
- Peall, K. J., Owen, M. J. and Hall, J. 2024. Rare genetic brain disorders with overlapping neurological and psychiatric phenotypes. Nature Reviews Neurology 20(1), pp. 7-21. (10.1038/s41582-023-00896-x)
- Peall, K., Owen, M. and Hall, J. 2024. Rare genetic brain disorders with overlapping neurological and psychiatric phenotypes. Nature Reviews Neurology 20, pp. 7-21. (10.1038/s41582-023-00896-x)
- MacIver, C. et al. 2023. Macro- and micro-structural Insights into primary dystonia A UK Biobank study. Journal of Neurology (10.1007/s00415-023-12086-2)
- Peall, K. et al. 2023. Non-motor symptoms in Dystonia: From diagnosis to treatment. Dystonia 2, article number: 11860. (10.3389/dyst.2023.11860)
- Bailey, G., Wadon, M., Komarzynski, S., Matthews, C., Haf Davies, E. and Peall, K. 2023. Accelerometer-derived sleep measures in idiopathic dystonia: A UK Biobank cohort study. Brain and Behavior 13(9), article number: e2933. (10.1002/brb3.2933)
- Schalkamp, A., Peall, K. J., Harrison, N. A. and Sandor, C. 2023. Wearable movement-tracking data identify Parkinson's disease years before clinical diagnosis. Nature Medicine 29, pp. 2048-2056. (10.1038/s41591-023-02440-2)
- Sperandeo, A. et al. 2023. Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia. Brain 146(4), pp. 1523-1541. (10.1093/brain/awac365)
- Tax, C. M. W. et al. 2023. Ultra-strong diffusion-weighted MRI reveals cerebellar grey matter abnormalities in movement disorders. NeuroImage: Clinical 38, article number: 103419. (10.1016/j.nicl.2023.103419)
- Bailey, G., Matthews, C., Szewczyk-krolikowski, K., Moore, P., Komarzynski, S., Haf Davies, E. and Peall, K. 2023. Use of remote monitoring and integrated platform for the evaluation of sleep quality in adult-onset idiopathic cervical dystonia. Journal of Neurology 270, pp. 1759-1769. (10.1007/s00415-022-11490-4)
- Bailey, G. A., Rawlings, A., Torabi, F., Pickrell, W. O. and Peall, K. J. 2022. Longitudinal analysis of the relationship between motor and psychiatric symptoms in idiopathic dystonia. European Journal of Neurology 29(12), pp. 3513-3527. (10.1111/ene.15530)
- Wadon, M., Fenner, E., Kendall, K., Bailey, G., Sandor, C., Rees, E. and Peall, K. J. 2022. Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study. Journal of Neurology 269, pp. 6436-6451. (10.1007/s00415-022-11307-4)
- Bailey, G. A., Martin, E. and Peall, K. J. 2022. Cognitive and neuropsychiatric impairment in dystonia. Current Neurology and Neuroscience Reports 22, pp. 699-708. (10.1007/s11910-022-01233-3)
- Pérez-Dueñas, B. et al. 2022. The genetic landscape of complex childhood-onset hyperkinetic movement disorders. Movement Disorders 37(11), pp. 2197-2209. (10.1002/mds.29182)
- MacIver, C. L., Tax, C. M. W., Jones, D. K. and Peall, K. J. 2022. Structural magnetic resonance imaging in dystonia: A systematic review of methodological approaches and findings. European Journal of Neurology 29(11), pp. 3418-3448. (10.1111/ene.15483)
- Bailey, G., Rawlings, A., Torabi, F., Pickrell, O. and Peall, K. 2022. Adult-onset idiopathic dystonia: a national data-linkage study to determine epidemiological, social deprivation and mortality characteristics. European Journal of Neurology 29(1), pp. 91-104. (10.1111/ene.15114)
- MacIver, C. and Peall, K. 2021. Contribution of multi-modal imaging to our understanding of dystonia pathogenesis. Journal of Neurology 268(8), pp. 3043-3045. (10.1007/s00415-021-10696-2)
- Bailey, G. A., Hubbard, E. K., Fasano, A., Tijssen, M. A. J., Lynch, T., Anderson, K. N. and Peall, K. P. 2021. Sleep disturbance in movement disorders – insights, treatments and challenges. Journal of Neurology, Neurosurgery and Psychiatry 92(7), pp. 723-736. (10.1136/jnnp-2020-325546)
- Wadon, M., MacIver, C., Winter, M. and Peall, K. 2021. Internet-based cognitive behavioural therapy as a feasible treatment of adult-onset, focal, isolated, idiopathic cervical dystonia. Clinical Parkinsonism & Related Disorders 5, article number: 100121. (10.1016/j.prdoa.2021.100121)
- Steel, D. et al. 2020. Loss‐of‐function variants in HOPS complex genes VPS16 and VPS41 cause early‐onset dystonia associated with lysosomal abnormalities. Annals of Neurology 88(5), pp. 867-877. (10.1002/ana.25879)
- Young, C. and Peall, K. J. 2020. Reply to comment on: Management of Parkinson’s disease during pregnancy: literature review and multi-disciplinary input. Movement Disorders Clinical Practice 7(7), pp. 882-882. (10.1002/mdc3.13047)
- Fearon, C., Peall, K. J., Vidailhe, M. and Fasano, A. 2020. Medical management of myoclonus-dystonia and implications for underlying pathophysiology. Parkinsonism and Related Disorders 77, pp. 48-56. (10.1016/j.parkreldis.2020.06.016)
- Cunningham, A., Fung, W., Massey, T., Hall, J., Owen, M., Van Den Bree, M. and Peall, K. 2020. Movement disorder phenotypes in children with 22q11.2 deletion syndrome. Movement Disorders 35(7), pp. 1272-1274. (10.1002/mds.28078)
- Wadon, M. E., Winter, M. and Peall, K. J. 2020. Internet-based cognitive behavioural therapy programme as an intervention for people diagnosed with adult-onset, focal, isolated, idiopathic cervical dystonia: a feasibility study protocol. Pilot and Feasibility Studies 6, article number: 100. (10.1186/s40814-020-00641-x)
- Eggink, H. et al. 2020. The effectiveness of deep brain stimulation in dystonia: a patient-centered approach. Tremor and Other Hyperkinetic Movements 10, article number: 2. (10.5334/tohm.69)
- Timmers, E. R. et al. 2020. Natural course of Myoclonus-Dystonia in adulthood: stable motor signs but increased psychiatry. Movement Disorders 35(6), pp. 1077-1078. (10.1002/mds.28033)
- Young, C., Phillips, R., Ebenezer, L., Zutt, R. and Peall, K. 2020. Management of Parkinson’s Disease during pregnancy: literature review and multi-disciplinary input. Movement Disorders Clinical Practice 7(4), pp. 419-430. (10.1002/mdc3.12925)
- Jones, L. et al. 2019. A case of treatment resistance and complications in a patient with stiff person syndrome and cerebellar ataxia. Tremor and Other Hyperkinetic Movements 9 (10.7916/tohm.v0.677)
- Barker, R. A. et al. 2019. Designing stem-cell-based dopamine cell replacement trials for Parkinson's disease. Nature Medicine 25(7), pp. 1045-1053. (10.1038/s41591-019-0507-2)
- Cunningham, A. et al. 2019. Using kinematic analyses to explore sensorimotor control impairments in children with 22q11.2 deletion Syndrome. Journal of Neurodevelopmental Disorders 11, article number: 8. (10.1186/s11689-019-9271-3)
- Fung, W. K. W. and Peall, K. J. 2019. What is the role of the cerebellum in the pathophysiology of dystonia?. Journal of Neurology 266(6), pp. 1549 -1551. (10.1007/s00415-019-09344-7)
- Egmond, M. E. et al. 2019. Variable interpretation of the dystonia consensus classification items compromises its solidity. Movement Disorders 34(3), pp. 317-320. (10.1002/mds.27627)
- Alakbarzade, V. et al. 2019. Copy number variation of LINGO1 in familial dystonic tremor. Neurology Genetics 5(1), article number: e307. (10.1212/NXG.0000000000000307)
- Eggink, H. et al. 2019. Motor and non-motor determinants of health-related quality of life in young dystonia patients. Parkinsonism & Related Disorders 58, pp. 50-55. (10.1016/j.parkreldis.2018.08.008)
- Fung, W. and Peall, K. J. 2018. Does 22q11.2 deletion syndrome contribute to the genetic aetiology of Parkinson's disease?. Journal of Neurology 265(10), pp. 2463-2465. (10.1007/s00415-018-9046-x)
- Zutt, R. et al. 2018. Electrophysiologic testing aids diagnosis and subtyping of myoclonus. Neurology 90(8), pp. e647-e657. (10.1212/WNL.0000000000004996)
- Peall, K. et al. 2017. Low CSF 5-HIAA in myoclonus dystonia. Movement Disorders 32(11), pp. 1647-1649. (10.1002/mds.27117)
- Peall, K. J., Lorentzos, M., Heyman, I., Tijssen, M., Owen, M. J., Dale, R. and Kurian, M. 2017. A review of psychiatric co-morbidity described in genetic and immune mediated movement disorders. Neuroscience & Biobehavioral Reviews 80, pp. 23-35. (10.1016/j.neubiorev.2017.05.014)
- van de Zande, N. A. et al. 2017. Clinical characterization of dystonia in adult patients with Huntington's disease. European Journal of Neurology 24(9), pp. 1140-1147. (10.1111/ene.13349)
- van Egmond, M. E. et al. 2017. A post hoc study on gene panel analysis for the diagnosis of dystonia. Movement Disorders -New York- 32(4), pp. 569-575. (10.1002/mds.26937)
- Robertson, N. and Peall, K. J. 2017. Dystonia: opportunities to gain insights into underlying pathophysiological mechanisms. Journal of Neurology 264(3), pp. 616-618. (10.1007/s00415-017-8411-5)
- Meyer, E. et al. 2017. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nature Genetics 49, pp. 223-237. (10.1038/ng.3740)
- Peall, K. J. and Robertson, N. 2016. Idiopathic rapid eye movement sleep behaviour disorder: a potential gateway to the development of disease-modifying treatments in neurodegenerative disorders. Journal of Neurology 263(8), pp. 1678-1680. (10.1007/s00415-016-8235-8)
- Massey, T., Pickersgill, T. T. and Peall, K. J. 2016. Nitrous oxide misuse and vitamin B12 deficiency. BMJ Case Reports, article number: 215728. (10.1136/bcr-2016-215728)
- Zutt, R., Dijk, J. M., Peall, K. J., Speelman, H., Dreissen, Y. E. M., Contarino, M. F. and Tijssen, M. A. J. 2016. Distribution and coexistence of myoclonus and dystonia as clinical predictors of SGCE mutation status: a pilot study. Frontiers in Neurology 7, article number: 72. (10.3389/fneur.2016.00072)
- Peall, K. J. et al. 2016. Psychiatric disorders, myoclonus dystonia and SGCE: an international study. Annals of Clinical and Translational Neurology 3(1), pp. 4-11. (10.1002/acn3.263)
- Peall, K. J. and Robertson, N. 2015. Biomarkers in Alzheimer's Disease: understanding disease trajectory and therapeutic targets. Journal of Neurology 262(9), pp. 2195-2197. (10.1007/s00415-015-7881-6)
- Peall, K. J., Kuiper, A., de Koning, T. and Tijssen, M. 2015. Non-motor symptoms in genetically defined dystonia: homogenous groups require systematic assessment. Parkinsonism & Related Disorders 21(9), pp. 1031-1040. (10.1016/j.parkreldis.2015.07.003)
- Peall, K. and Kurian, M. 2015. Benign hereditary chorea: an update. Tremor and Other Hyperkinet Movements 2015, article number: 3. (10.7916/D8RJ4HM5)
- Mencacci, N. et al. 2015. A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystoniaa. American Journal of Human Genetics 96(6), pp. 938-947. (10.1016/j.ajhg.2015.04.008)
- Peall, K. J. et al. 2014. SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype. Journal of Neurology 261(12), pp. 2296-2304. (10.1007/s00415-014-7488-3)
- Peall, K. 2014. Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning. Orphanet Journal of Rare Diseases 9, article number: 177. (10.1186/s13023-014-0177-6)
- Peall, K. J. and Robertson, N. 2014. Narcolepsy: environment, genes and treatment. Journal of Neurology 261(8), pp. 1644-1646. (10.1007/s00415-014-7435-3)
- Peall, K. J. et al. 2014. Benign hereditary chorea related toNKX2.1: expansion of the genotypic and phenotypic spectrum. Developmental Medicine and Child Neurology 56(7), pp. 642-6488. (10.1111/dmcn.12323)
- Peall, K. J. et al. 2014. SGCZ mutations are unlikely to be associated with myoclonus dystonia. Neuroscience 272, pp. 88-91. (10.1016/j.neuroscience.2014.04.034)
- Peall, K. J. et al. 2013. SGCE mutations cause psychiatric disorders: clinical and genetic characterization. Brain 136(1), pp. 294-303. (10.1093/brain/aws308)
- Peall, K. J. and Robertson, N. 2013. Parkinsonism, dementia and glucocerebrosidase mutations. Journal of Neurology 260(5), pp. 1441-1444. (10.1007/s00415-013-6923-1)
- Peall, K. J. et al. 2012. Myoclonus dystonia syndrome: SGCE mutations and psychiatric disease [Abstract]. Journal of Neurology 259, pp. S30-S30.
- Peall, K. J., Waite, A. J., Blake, D. J., Owen, M. J. and Morris, H. R. 2011. Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic review. Movement Disorders 26(10), pp. 1939-1942. (10.1002/mds.23791)
Thesis
- Peall, K. J. 2012. Clinical and genetic investigation of the epsilon-sarcoglycan complex in neurologic and psychiatric disease. PhD Thesis, Cardiff University.
Supervisions
I am interested in supervising PhD students, interested in studying dystonia, in the areas of:
- Clinical phenotyping
- Genetics of complex disease
- Invertebrate and in vitro models
Contact Details
PeallKJ@cardiff.ac.uk
+44 29206 88338
Hadyn Ellis Building, Room 3.42, Maindy Road, Cardiff, CF24 4HQ
+44 29206 88338
Hadyn Ellis Building, Room 3.42, Maindy Road, Cardiff, CF24 4HQ
