Sheffield Institute for
Translational Neuroscience

Dr Alisdair McNeill PhD MRCP (UK) DCH

INSIGNEO Senior Clinical Fellow & Honorary Consultant in Clinical Genetics, Sheffield Children's Hospital

Research Interests

My research interest focuses on the genetic cause of neurological disorders, in children and adults.  I am  identifying new ways of phenotyping patients in order to improve diagnosis and disease monitoring. For example, using patient wearable movement sensors (collaboration with INSIGNEO) in adults with neurological disorders and 3-dimensional facial image analysis (collaboration with Prof Peter Hammond, Oxford) in children with chromosome microdeletions. 
I am also interested in studying variants of uncertain significance identified in clinical genetics testing, and resolving their pathogenicity through clinical phenotyping and in vitro studies.      

Current Projects

Clinical research - Investigation of the ability of patient wearable accelerometers to monitor disease progression in neurological disorders.  INSIGNEO collaboration. 

Basic science – Investigating the role of deletions and mutations of SOX genes in human neurological and neurodevelopmental disorders.


  • Rosetrees Trust
  • Bailey-Thomas Charitable Fund
  • Royal College of Physicians of Edinburgh
  • Oakdale Trust 
  • Sir Hailey-Stewart Trust 


Beavan M, McNeill A, Proukakis C, et al.  Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohort.  JAMA Neurol 2015; 72: 201-208.

McNeill A, Magalhaes J, Shen C, et al.  Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation linked Parkinson's disease cells. Brain 2014;137:1481-95.   

McNeill A, Healy DG, Schapira AH, Taanman JW.  Glucosylceramidase metabolism in fibroblasts carrying bi-allelic Parkin mutations. Mol Genet Metab 2013;109:402-3.

Dziewulska D,  Do H, Fasano A, Erro R, Fatehi F Fekete R, Gatto EM, Pablos EG, Lehn A, Miyajima H, Piperno  A, Pellechia MT, WuYR, YoshidaK, Zarruk JG,  Jingli S,  Shrag AE, McNeill A. Olfactory impairment and pathology in neurodegenerative disorders with brain Iron accumulation. Acta Neuropathol 2013; 126: 151-153.

McNeill A, Roberti G, Lascaratos G, Mehta A, Hughes DA, Garway-Heath D, Schapira AH.  Retinal thinning in Gaucher disease patient and carriers: results of a pilot study. Mol Genet Metab 2013; 109: 221- 3.

McNeill A, Duran R, Mehta A, Hughes D, Schapira AH.  A clinical and family history study of Parkinson's disease in heterozygous glucocerebrosidase mutation carriers. J Neurol Neurosurg Psych 2012;83: 853-854.

McNeill A, Gorman G, Khan A, Burn J, Blamire A, Chinnery PF.  Progressive iron accumulation in  neuroferritinopathy measured by the thalamic R2* relaxation rate. Am J Neuroradiol  2012; 33: 1810-1813.

McNeill A, Duran R, Bras J, Mehta A, Hughes D, Hardy J, Wood NW, Schapira AH. Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Mov Disord 2012; 27: 526-532.

McNeill A, Rattenberry E, Barber R, Killick P, MacDonald F, Maher ER. Genotype-phenotype correlations in VHL exon deletions. Am J Med Genet A. 2009;149A:2147-51.

McNeill A, Birchall D, Hayflick SJ, Gregory A, Schenk JF, Zimmerman EA, Shang H, Miyajima H, Chinnery PF. T2* and FSE MRI distinguishes four subtypes of Neurodegeneration with Brain Iron Accumulation. Neurology 2008; 70: 1614 – 1619.

McNeill A, Pandolfo M, Kuhn J, Shang H, Miyajima H. The neurological presentation of ceruloplasmin mutations. Eur Neurol 2008; 60: 200-5.

McLennan NF, Brennan PM, McNeill A, Davies I, Fotheringham A, Rennison KA, Ritchie D, Brannan F, Head MW, Ironside JW, Williams A, Bell JE. Prion protein accumulation and neuroprotection in hypoxic brain damage. Am J Pathol 2004; 167: 227 – 235.


I qualified MBChB (Hons) from Edinburgh University in 2004 and obtained the MRCP (UK) in 2007.  I undertook Medical SHO training in Newcastle-upon-Tyne and Edinburgh, Clinical Genetics SpR training in the West Midlands and an MRC Clinical Research Training Fellowship at UCL. 

Contact Details

Department of Neuroscience
Sheffield Institute for Translational Neuroscience
University of Sheffield
385a Glossop Road
S10 2HQ