Yr Athro Kathryn Peall

2026

• Latorre, A. et al., 2026. Deep brain stimulation for the treatment of patients with dystonia: advances towards network-based personalised care. The Lancet. Neurology 25 (8), pp.781-788. (10.1016/s1474-4422(26)00192-4)
• Peall, K. J. and Roze, E. 2026. Myoclonus dystonia. International Review of Movement Disorders (10.1016/bs.irmvd.2026.05.004)
• Cameron, D. et al. 2026. Developmental, neuroanatomical and cellular expression of genes causing dystonia. Annals of Clinical and Translational Neurology 13 (5), pp.1005-1019. (10.1002/acn3.70285)
• Schalkamp, A. et al. 2026. Comment on “Delayed disease onset report in UK Biobank: implications for prodromal studies in Parkinson's disease” [Letter]. Movement Disorders 41 (4), pp.1050-1052. mds.70253. (10.1002/mds.70253)
• Barker, R. A. et al., 2026. The TransEuro open-label trial of human fetal ventral mesencephalic transplantation in patients with moderate Parkinson's disease.. Nature Biotechnology 44 , pp.70-78. (10.1038/s41587-025-02567-2)
• Desjardins, C. et al., 2026. Non‐motor symptom scales in pediatric movement disorders: A call for diagnostic‐specific tools. Movement Disorders 41 (1), pp.63-67. (10.1002/mds.70122)
• Gimeno, H. et al., 2026. Transforming pediatric movement disorders assessment: from expert consensus to collaborative approaches [Reply]. Movement Disorders 41 (1), pp.286-287. (10.1002/mds.70163)
• Li, Z. et al. 2026. Transcriptomic disruption and hypoactivity in DYT-SGCE medial ganglionic eminence-patterned inhibitory neurons. Brain 149 (1), pp.209-225. awaf272. (10.1093/brain/awaf272)

2025

• Desjardins, C. et al., 2025. Nonmotor symptom scales in children with movement disorders. Neurology 105 (9) e214289. (10.1212/wnl.0000000000214289)
• Li, W. et al., 2025. Mapping the distribution of neurotransmitters to resting-state functional connectivity in Parkinson’s disease. Brain Communications 7 (5) fcaf308. (10.1093/braincomms/fcaf308)
• Martino, D. et al., 2025. Diagnostic accuracy of screening tools for depression and anxiety in cervical dystonia. Parkinsonism & Related Disorders 136 107891. (10.1016/j.parkreldis.2025.107891)
• Schalkamp, A. et al. 2025. Wearables-derived risk score for unintrusive detection of α-synuclein aggregation or dopaminergic deficit. EBioMedicine 117 105782. (10.1016/j.ebiom.2025.105782)

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) 1520. (10.3390/cells13181520)
• MacIver, C. L. et al. 2024. White matter microstructural changes using ultra-strong diffusion gradient MRI in adult-onset idiopathic focal cervical dystonia. Neurology 103 (4) e209695. (10.1212/WNL.0000000000209695)
• Bailey, G. et al. 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. et al., 2024. Digital outcome measures from smartwatch data relate to non-motor features of Parkinson’s disease. npj Parkinson's Disease 10 (1) 110. (10.1038/s41531-024-00719-w)
• Green, K. et al. 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 11860. (10.3389/dyst.2023.11860)
• Bailey, G. et al. 2023. Accelerometer-derived sleep measures in idiopathic dystonia: A UK Biobank cohort study. Brain and Behavior 13 (9) e2933. (10.1002/brb3.2933)
• Schalkamp, A. et al. 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 103419. (10.1016/j.nicl.2023.103419)
• Bailey, G. et al. 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. et al. 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. et al. 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)
• MacIver, C. L. et al. 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)
• 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)
• Bailey, G. et al. 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. et al. 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. et al. 2021. Internet-based cognitive behavioural therapy as a feasible treatment of adult-onset, focal, isolated, idiopathic cervical dystonia. Clinical Parkinsonism & Related Disorders 5 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. et al., 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. et al. 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 6 100. (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 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. et al., 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 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) 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. et al. 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 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)
• 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)

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 215728. (10.1136/bcr-2016-215728)
• Zutt, R. et al., 2016. Distribution and coexistence of myoclonus and dystonia as clinical predictors of SGCE mutation status: a pilot study. Frontiers in Neurology 7 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. et al. 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 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 9 177. (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. 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. 2013. SGCE mutations cause psychiatric disorders: clinical and genetic characterization. Brain 136 (1), pp.294-303. (10.1093/brain/aws308)

2012

• Peall, K. J. 2012. Clinical and genetic investigation of the epsilon-sarcoglycan complex in neurologic and psychiatric disease. PhD Thesis , Cardiff University.
• Peall, K. J. et al. 2012. Myoclonus dystonia syndrome: SGCE mutations and psychiatric disease [Abstract]. Journal of Neurology 259 , pp.S30-S30.

2011

• Peall, K. J. et al. 2011. Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: a systematic review. Movement Disorders 26 (10), pp.1939-1942. (10.1002/mds.23791)