Dr Kathryn Peall

2020

• 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)
• 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 (10.1002/ana.25879)
• 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, 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.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)
• 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

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.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 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.et al. 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 andSGCE: 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, 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.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)