Sheffield Institute for
Translational Neuroscience

Dr Alisdair McNeill PhD FRCP (Edin) DCH FHEA

Senior Clinical Lecturer in Neurogenetics & Consultant in Clinical Genetics at Sheffield Childrens Hospital NHS Foundation Trust


Research Interests

My research interest focuses on the genetic cause(s) of neurological disorders, in children and adults. In recent years work in my group has identified novel neurogenetic syndromes associated with variants in the SOX4, SOX11, MYT1L and SLC12A2 genes.  

In adults, my interest centres on studying the early (prodromal) stages of neurodegenerative disease using carriers of genetic mutations.  We have used gait analysis and wearable sensors to identify preclinical motor changes in presymptomatic mutation carriers (22q11 deletion, genetic ataxias).  

I am happy to consider applications from self funded students interested in PhD projects in this field. 

Current Projects

Gait analysis as a stratification tool in neurological disorders (with Prof Claudia Mazza, INSIGNEO and Prof Bandmann, Neuroscience)

Genomic identification of novel neurogenetic disorders

Cognitive and behavioural phenotyping of rare neurogenetic disorders (with Dr Megan Freeth, Psychology)


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

Research Team

Doctoral students

Tarub Binshalen (Primary supervisor)

Louis Stokes (Primary supervisor)


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