Staff Profile

I am a clinical senior lecturer and honorary consultant neurologist. I am one of the key team members of the NHS Highly Specialised Service for Rare Mitochondrial Disorders.

Qualifications

MBChB (Hons), University of Aberdeen (2007)

MRCP (UK) (2011)

PhD, Newcastle University (2016)

MRCP (Neurology) (2021)

Membership

Association of British Neurologists (ABN)

European Academy of Neurology (EAN)

Ataxia Global Initiatives

Research Interests

Neurological manifestations and neurodegeneration are prominent in many mitochondrial diseases, and their clinical management is challenging. While promising novel compounds are emerging, the disease trajectory in different genotypes remain poorly investigated, imposing significant barriers of translation into clinical trials. My research interests focus on the following aspects:

1) Characterising ataxia in adult patients with mitochondrial disease and comparing with the other forms of genetic ataxia;

2) Understanding the natural history of stroke-like episodes (clinical, radiological, EEG and neuropathological aspects), the most devastating acute presentation for a subgroup of patients;

3) Conducting observational studies of specific phenotypes or genotypes associated with mitochondrial disease;

4) Developing clinical practice guidelines for adult patients in collaboration with colleagues within the NHS Highly Specialised Service for Rare Mitochondrial Disorders and external experts.

Undergraduate clinical teaching (Medicine and Surgery)

- Year 3 EoCP (Essential of Clinical Practice)

- Year 4 MOSLER examiner

Postgraduate

- Project supervisor for Master of Research (MRes) 

- Lecturer for Mitochondrial Biology & Medicine MRes module

- Deputy lead for Clinical Research Dissertation (e-learning) module

- Academic supervisor for Academic Foundation Programme (AFP)

• Bourke JP, Ng YS, Tynan M, Bates MGD, Mohiddin S, Turnbull D, Gorman GS. Arrhythmia prevalence and sudden death risk in adults with the m.3243A>G mitochondrial disorder. Open Heart 2022, 9(1), e001819.
• Ng YS, Lax NZ, Blain AP, Erskine D, Baker MR, Polvikoski T, Thomas RH, Morris CM, Lai M, Whittaker RG, Gebbels A, Winder A, Hall J, Feeney C, Farrugia ME, Hirst C, Roberts M, Lawthom C, Chrysostomou A, Murphy K, Baird T, Maddison P, Duncan C, Poulton J, Nesbitt V, Hanna MG, Pitceathly RDS, Taylor RW, Blakely EL, Schaefer AM, Turnbull DM, McFarland R, Gorman GS. Forecasting stroke-like episodes and outcomes in mitochondrial disease. Brain 2022, 145(2), 542-554.
• Stefanetti RJ, Ng YS, Errington L, Blain AP, McFarland R, Gorman GS. l-Arginine in Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes. Neurology 2022, 98(23), E2318-E2328.
• Lim AZ, Ng YS, Blain A, Jiminez-Moreno C, Alston CL, Nesbitt V, Simmons L, Santra S, Wassmer E, Blakely EL, Turnbull DM, Taylor RW, Gorman GS, McFarland R. Natural History of Leigh Syndrome: A Study of Disease Burden and Progression. Annals of Neurology 2022, 91(1), 117-130.
• Houghton D, Ng YS, Jackson MA, Stefanetti R, Hynd P, Aogáin MM, Stewart CJ, Lamb CA, Bright A, Feeney C, Newman J, Turnbull DM, McFarland R, Blain AP, Gorman GS. Phase II feasibility study of the efficacy, tolerability and impact on the gut microbiome of a low residue (fibre) diet in adult patients with mitochondrial disease. Gastro Hep Advances 2022, 1(4), 666-677.
• Bindoff LA, Brown DA, Gorman GS, Karaa A, Keshavan N, Lamperti C, Mancuso M, McFarland R, Ng YS, O'Callaghan M, Pitceathly RDS, Rahman S, Russel FGM, Schirris TJJ, Varhaug KN, De Vries MC. Comment on “A severe linezolid-induced rhabdomyolysis and lactic acidosis in Leigh syndrome”. Journal of Inherited Metabolic Disease 2021, 44(1), 6-7.
• Ng YS, Bindoff LA, Gorman GS, Klopstock T, Kornblum C, Mancuso M, McFarland R, Sue CM, Suomalainen A, Taylor RW, Thorburn DR, Turnbull DM. Mitochondrial disease in adults: recent advances and future promise. The Lancet Neurology 2021, 20(7), 573-584.
• Gomes TMB, Ng YS, Pickett SJ, Turnbull DM, Vincent AE. Mitochondrial DNA disorders: From pathogenic variants to preventing transmission. Human Molecular Genetics 2021, 30(R2), R245-R253.
• Lim AZ, Jones DM, Bates MGD, Schaefer AM, O'Sullivan J, Feeney C, Farrugia ME, Bourke JP, Turnbull DM, Gorman GS, McFarland R, Ng YS. Risk of cardiac manifestations in adult mitochondrial disease caused by nuclear genetic defects. Open Heart 2021, 8(1), e001510.
• Ng YS, Baker MR. Sensory Ganglionopathy. The New England Journal of Medicine 2021, 384(2), 192-194.
• Hatton C, Reeve A, Lax NZ, Blain A, Ng YS, El-Agnaf O, Attems J, Taylor JP, Turnbull D, Erskine D. Complex I reductions in the nucleus basalis of Meynert in Lewy body dementia: the role of Lewy bodies. Acta Neuropathologica Communications 2020, (8), 103.
• Cotta A, Alston CL, Baptista-Junior S, Paim JF, Carvalho E, Navarro MM, Appleton M, Ng YS, Valicek J, da-Cunha-Junior AL, Lima MI, de la Rocque Ferreira A, Takata RI, Hargreaves IP, Gorman GS, McFarland R, Pierre G, Taylor RW. Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic COQ8A variants, including a large intragenic deletion. JIMD Reports 2020, 54(1), 45-53.
• Erskine D, Reeve AK, Polvikoski T, Schaefer AM, Taylor RW, Lax NZ, El-Agnaf O, Attems J, Gorman GS, Turnbull DM, Ng YS. Lewy body pathology is more prevalent in older individuals with mitochondrial disease than controls. Acta Neuropathologica 2020, 139, 219-221.
• Stefanetti RJ, Blain A, Jimenez-Moreno C, Errington L, Ng YS, McFarland R, Turnbull DM, Newman J, Gorman GS. Measuring the effects of exercise in neuromuscular disorders: A systematic review and meta-analyses [version 1; peer review: 2 approved]. Wellcome Open Research 2020, 5(84).
• Ng YS, Thompson K, Loher D, Hopton S, Falkous G, Hardy SA, Schaefer AM, Shaunak S, Roberts ME, Lilleker JB, Taylor RW. Novel MT-ND Gene Variants Causing Adult-Onset Mitochondrial Disease and Isolated Complex I Deficiency. Frontiers in Genetics 2020, 11, 24.
• Chapman J, Ng YS, Nicholls TJ. The Maintenance of Mitochondrial DNA Integrity and Dynamics by Mitochondrial Membranes. Life 2020, 10(9), 164.
• Ng YS, Turnbull DM. When to think about mitochondrial disease. Practical Neurology 2020, 20(4), 260-261.
• Zierz CM, Baty K, Blakely EL, Hopton S, Falkous G, Schaefer AM, Hadjivassiliou M, Sarrigiannis PG, Ng YS, Taylor RW. A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia. Journal of Clinical Medicine 2019, 8(6), 789.
• Boal RL, Ng YS, Pickett S, Schaefer AM, Feeney C, Bright A, Taylor RW, Turnbull DM, Gorman GS, Cheetham T. Height as a clinical biomarker of disease burden in adult mitochondrial disease. Journal of Clinical Endocrinology and Metabolism 2019, 104(6), 2057-2066.
• Hayhurst H, de Coo IFM, Piekutowska-Abramczuk D, Alston CL, Sharma S, Thompson K, Rius R, He L, Hopton S, Ploski R, Ciara E, Lake NJ, Compton AG, Delatycki MB, Verrips A, Bonnen PE, Jones SA, Morris AA, Shakespeare D, Christodoulou J, Wesol-Kucharska D, Rokicki D, Smeets HJM, Pronicka E, Thorburn DR, Gorman GS, McFarland R, Taylor RW, Ng YS. Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis. Annals of Clinical and Translational Neurology 2019, 6(3), 515-524.
• Pickett SJ, Blain A, Ng YS, Wilson IJ, Taylor RW, McFarland R, Turnbull DM, Gorman GS. Mitochondrial donation - Which women could benefit?. New England Journal of Medicine 2019, 380(20), 1971-1972.
• Braz LP, Ng YS, Gorman GS, Schafer AM, McFarland R, Taylor RW, Turnbull DM, Whittaker RG. Neuromuscular junction abnormalities in mitochondrial disease; an observational cohort study. Neurology Clinical Practice 2019, ePub ahead of Print.
• Ng YS, Martikainen MH, Gorman GS, Blain A, Bugiardini E, Bunting A, Schaefer AM, Alston CL, Blakely EL, Sharma S, Hughes I, Lim A, de Goede C, McEntagart M, Spinty S, Horrocks I, Roberts M, Woodward CE, Chinnery PF, Horvath R, Nesbitt V, Fratter C, Poulton J, Hanna MG, Pitceathly RDS, Taylor RW, Turnbull DM, McFarland R. Pathogenic variants in MT-ATP6: A United Kingdom–based mitochondrial disease cohort study. Annals of Neurology 2019, 86(2), 310-315.
• Vincent AE, White K, Davey T, Philips J, Ogden RT, Lawless C, Warren C, Hall MG, Ng YS, Falkous G, Holden T, Deehan D, Taylor RW, Turnbull DM, Picard M. Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network. Cell Reports 2019, 26(4), 996-1009.e4.
• Ng YS, Lax NZ, Maddison P, Alston CL, Blakely EL, Hepplewhite PD, Riordan G, Meldau S, Chinnery PF, Pierre G, Chronopoulou E, Du A, Hughes I, Morris AA, Kamakari S, Chrousos G, Rodenburg RJ, Saris CGJ, Feeney C, Hardy SA, Sakakibara T, Sudo A, Okazaki Y, Murayama K, Mundy H, Hanna MG, Ohtake A, Schaefer AM, Champion MP, Turnbull DM, Taylor RW, Pitceathly RDS, McFarland R, Gorman GS. MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load. EBioMedicine 2018, 30, 86-93.
• Grady JP, Pickett SJ, Ng YS, Alston CI, Blakely EL, Hardy SA, Feeney CL, Bright AA, Schaefer AM, Gorman GS, McNally RJ, Taylor RW, Turnbull DM, McFarland R. mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease. EMBO Molecular Medicine 2018, 10(6), e8262.
• Rocha MC, Rosa HS, Grady JP, Blakely EL, He L, Romain N, Haller RG, Newman J, McFarland R, Ng YS, Gorman GS, Schaefer AM, Tuppen HA, Taylor RW, Turnbull DM. Pathological mechanisms underlying single large-scale mitochondrial DNA deletions. Annals of Neurology 2018, 83(1), 115-130.
• Pickett S, Grady JP, Ng YS, Gorman GS, Schaefer AM, Wilson IJ, Cordell HJ, Turnbull DM, Taylor RW, McFarland R. Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors. Annals of Clinical and Translational Neurology 2018, 5(3), 333-345.
• Ng YS, van Ruiten H, Lai HM, Scott R, Ramesh V, Horridge K, Taylor RW, Turnbull DM, Gorman GS, McFarland R, Baker MR. The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG-related mitochondrial disease. Epilepsia Open 2018, 3(1), 103-108.
• Sommerville EW, Ng YS, Alston CL, Dallabona C, Gilberti M, He L, Knowles C, Chin SL, Schaefer AM, Falkous G, Murdoch D, Longman C, De Visser M, Bindoff LA, Rawles JM, Dean JCS, Petty RK, Farrugia ME, Haack TB, Prokisch H, McFarland R, Turnbull DM, Donnini C, Taylor RW, Gorman GS. Clinical features, molecular heterogeneity, and prognostic implications in YARS2-related mitochondrial myopathy. JAMA Neurology 2017, 74(6), 686-694.
• Martikainen MH, Grady JP, Ng YS, Alston CL, Gorman GS, Taylor RW, McFarland R, Turnbull DM. Decreased male reproductive success in association with mitochondrial dysfunction. European Journal of Human Genetics 2017, 25(10), 1162-1164.
• Ng YS, Taylor RW, Schaefer AM. Diabetes Mellitus in Mitochondrial Disease. In: Frontiers in Diabetes. S. Karger AG, 2017, pp.55-68.
• Ng YS, Powell H, Hoggard N, Turnbull DM, Taylor RW, Hadjivassiliou M. Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia. Neurology Genetics 2017, 3(5), e181.