Yr Athro Kathryn Peall

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)

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)
• 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. 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)
• 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., 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. 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. 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)