Dr Alisdair McNeill
PhD FRCP (Edin) DCH FHEA
Neuroscience, School of Medicine and Population Health
Senior Clinical Lecturer in Neurogenetics
Consultant in Clinical Genetics at Sheffield Children's Hospital NHS Foundation Trust
+44 114 222 2267
Full contact details
Neuroscience, School of Medicine and Population Health
Sheffield Institute for Translational Neuroscience (SITraN)
385a Glossop Road
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.
- 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.
- 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)
- Impaired communication ability in SOX11 syndrome. Journal of Intellectual Disability Research. View this article in WRRO
- Deep phenotyping and population-level data can help resolve genomic variants. European Journal of Human Genetics, 31(11), 1199-1200.
- Expanding what we know about rare genetic diseases. European Journal of Human Genetics, 31(10), 1091-1092.
- A new impact factor for EJHG in 2022. European Journal of Human Genetics, 31(8), 847-848.
- Unusual genomic variants require unusual analyses. European Journal of Human Genetics, 31(7), 721-722.
- The complex genomics of single gene disorders. European Journal of Human Genetics, 31(6), 609-610.
- Molecular explanations for variability of clinical phenotypes. European Journal of Human Genetics, 31(5), 491-492.
- April, again. European Journal of Human Genetics, 31(4), 369-370.
- Genes=disease (?).. Eur J Hum Genet, 31(3), 255-256.
- 2022: the year that was in the European Journal of Human Genetics. European Journal of Human Genetics, 31(2), 131-133.
- The value of exomes across the ages. European Journal of Human Genetics, 31(2), 129-130.
- New year, new genes. European Journal of Human Genetics, 31(1), 1-2.
- The utility of population level genomic research. European Journal of Human Genetics, 30(12), 1307-1308.
- Genome sequencing—do you know what you are getting into?. European Journal of Human Genetics, 30(11), 1201-1202.
- Happy 30th birthday to the European Journal of Human Genetics!. Eur J Hum Genet, 30(10), 1095-1096.
- Guidelines, guidelines everywhere—and still I’m not sure what to do. European Journal of Human Genetics, 30(9), 989-990.
- Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders. Human Mutation, 43(11), 1609-1628.
- Exome sequencing—one test to rule them all?. European Journal of Human Genetics, 30(8), 869-869.
- The effectiveness of physiotherapy interventions for mobility in severe multiple sclerosis: a systematic review and meta-analysis. Multiple Sclerosis International, 2022.
- A qualitative interview study of the attitudes toward reproductive options of people with genetic visual loss. Journal of Genetic Counseling.
- Clinical genomics testing: mainstreaming and globalising.. Eur J Hum Genet, 30(7), 747-748.
- What's new in genetics in June 2022?. Eur J Hum Genet, 30(6), 633-634.
- No gene to predict the future?. Eur J Hum Genet, 30(5), 491-492.
- Investigation and management of Wilson's disease: a practical guide from the British Association for the Study of the Liver. The Lancet Gastroenterology & Hepatology.
- No April fools in clinical genomics. European Journal of Human Genetics, 30(4), 389-390.
- Predictive genetic testing for motor neuron disease : time for a guideline?. European Journal of Human Genetics.
- SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile. Genetics in Medicine, 24(6), 1261-1273.
- Good genotype-phenotype relationships in rare disease are hard to find. European Journal of Human Genetics, 30(3), 251-251.
- A new system for variant classification?. European Journal of Human Genetics, 30(2), 137-138.
- Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.. HGG Advances, 3(1). View this article in WRRO
- 2021 at European Journal of Human Genetics: the year in review.. Eur J Hum Genet, 30(1), 3-4.
- Genomics elucidates both common and rare disease aetiology. European Journal of Human Genetics, 29(12), 1725-1726.
- Dominant and recessive SLC12A2-syndrome. American Journal of Medical Genetics Part A.
- Genotyping arrays, population genetic studies and clinical implications.. Eur J Hum Genet.
- Comment on : Bi-allelic variants in genes previously associated with dominant inheritance : CACNA1A, RET and SLC20A2. European Journal of Human Genetics, 29, 1475-1476.
- Fond farewell to clinical utility gene cards.. Eur J Hum Genet.
- A new impact factor for European Journal of Human Genetics.. Eur J Hum Genet, 29(8), 1165.
- Clinical genetics—it’s polygenic. European Journal of Human Genetics, 29(7), 1037-1037.
- Clinical genomics-but faster.. Eur J Hum Genet.
- Out now in May's EJHG.. Eur J Hum Genet, 29(5), 721.
- What’s new in EJHG in April. European Journal of Human Genetics, 29(4), 539-540.
- Ursodeoxycholic acid as a novel disease-modifying treatment for Parkinson’s disease: protocol for a two-centre, randomised, double-blind, placebo-controlled trial, The 'UP' study. BMJ Open, 10(8), e038911-e038911.
- SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect. Brain. View this article in WRRO
- Views of adults with 22q11 deletion syndrome on reproductive choices. American Journal of Medical Genetics Part A. View this article in WRRO
- Evolution and clustering of prodromal parkinsonian features in GBA1 carriers. Movement Disorders, 34(9), 1365-1373.
- Editorial for Brain Sciences Special Issue: “Diagnosis of Neurogenetic Disorders: Contribution of Next-Generation Sequencing and Deep Phenotyping”. Brain Sciences, 9(3). View this article in WRRO
- Movement disorders in adults with 22q11 deletion syndrome. Movement Disorders Clinical Practice. View this article in WRRO
- De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. The American Journal of Human Genetics, 104(2), 246-259. View this article in WRRO
- Are congenital anomalies of the kidney and urinary tract part of the SOX11 syndrome?. Kidney international, 94(4), 826-827. View this article in WRRO
- The psychosocial impact of 22q11 deletion syndrome on patients and families: A systematic review. American Journal of Medical Genetics Part A, 176(10), 2215-2225.
- A systematic review of the gait characteristics associated with Cerebellar Ataxia. Gait and Posture, 60, 154-163. View this article in WRRO
- MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus. PLoS Genetics, 13(8). View this article in WRRO
- Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases. JAMA Neurology, 74(7), 780-780.
- Hyposmia, symptoms of REM sleep behavior disorder and Parkinsonian motor signs suggests prodromal neurodegeneration in 22q11 deletion syndrome. NeuroReport. View this article in WRRO
- A 7q21.11 microdeletion presenting with apparent intellectual disability without epilepsy. American Journal of Medical Genetics Part A. View this article in WRRO
- Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing. Genome Biology, 18(1). View this article in WRRO
- Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. The American Journal of Human Genetics, 98(3), 500-513.
- Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome. Journal of Medical Genetics, 53(3), 152-162. View this article in WRRO
- Endoplasmic reticulum and lysosomal Ca2+ stores are remodelled in GBA1-linked Parkinson disease patient fibroblasts.. Cell Calcium, 59(1), 12-20. View this article in WRRO
- Evolution of Prodromal Clinical Markers of Parkinson Disease in a GBA Mutation–Positive Cohort. JAMA Neurology, 72(2), 201-208.
- Lysosomal dysfunction in Parkinson’s disease. Brain, 138(4), e339-e339.
- Visual short-term memory deficits associated with GBA mutation and Parkinson’s disease. Brain, 137(8), 2303-2311. View this article in WRRO
- Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells. Brain, 137(5), 1481-1495.
- Corrigendum to “Retinal thinning in Gaucher disease patients and carriers: Results of a pilot study” [Mol. Genet. Metab. 109 (2013) 221–223]. Molecular Genetics and Metabolism, 111(3), 408-408.
- Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nature Genetics, 46(9), 989-993.
- Glucosylceramidase degradation in fibroblasts carrying bi-allelic Parkin mutations. Molecular Genetics and Metabolism, 109(4), 402-403.
- Olfactory impairment and pathology in neurodegenerative disorders with brain iron accumulation. Acta Neuropathologica, 126(1), 151-153.
- Retinal thinning in Gaucher disease patients and carriers: Results of a pilot study. Molecular Genetics and Metabolism, 109(2), 221-223.
- The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism. Journal of Neurology, Neurosurgery & Psychiatry, 84(6), 666-673.
- A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease. Human Molecular Genetics, 22(5), 1039-1049.
- Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease. Human Molecular Genetics, 21(22), 4996-5009.
- Progressive Brain Iron Accumulation in Neuroferritinopathy Measured by the Thalamic T2* Relaxation Rate. American Journal of Neuroradiology, 33(9), 1810-1813.
- PLA2G6 Mutations and Other Rare Causes of Neurodegeneration with Brain Iron Accumulation. Current Drug Targets, 13(9), 1204-1206.
- Neuroferritinopathy: Update on Clinical Features and Pathogenesis. Current Drug Targets, 13(9), 1200-1203.
- A clinical and family history study of Parkinson's disease in heterozygousglucocerebrosidasemutation carriers. Journal of Neurology, Neurosurgery & Psychiatry, 83(8), 853-854.
- Novel pathogenic mutations in the glucocerebrosidase locus. Molecular Genetics and Metabolism, 106(4), 495-497.
- Hyposmia and cognitive impairment in Gaucher disease patients and carriers. Movement Disorders, 27(4), 526-532.
- Proteomic analysis of pre- and post-sunitinib treated renal cancer tissue to assess tumor heterogeneity and differential protein expression.. Journal of Clinical Oncology, 30(5_suppl), 388-388.
- Promoter mutation is a common variant in GJC2-associated Pelizaeus–Merzbacher-like disease. Molecular Genetics and Metabolism, 104(4), 637-643.
- Childhood disorders of neurodegeneration with brain iron accumulation (NBIA). Developmental Medicine & Child Neurology, 53(5), 394-404.
- Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome. The American Journal of Human Genetics, 88(4), 499-507.
- An unusual gait following the discovery of a new disease. Practical Neurology, 11(2), 81-84.
- Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. The Lancet, 377(9766), 641-649.
- Neurodegeneration with brain iron accumulation, 161-172.
- Genotype-phenotype correlations in VHL exon deletions. American Journal of Medical Genetics Part A, 149A(10), 2147-2151.
- Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation. European Neurology, 62(3), 161-166.
- The Neurological Presentation of Ceruloplasmin Gene Mutations. European Neurology, 60(4), 200-205.
- Failure of colonic anastomosis in a patient with colonic scleroderma. International Journal of Colorectal Disease, 22(7), 841-842.
- Neurological negligence claims in the NHS from 1995 to 2005. European Journal of Neurology, 14(4), 399-402.
- Using a case report to teach junior doctors about medical publishing. Medical Teacher, 29(5), 511-511.
- Chorea Induced by Low-Dose Trazodone. European Neurology, 55(2), 101-102.
- Expression of apolipoprotein-E in human perinatal brain after hypoxic-ischaemic injury. Pathology, 37(3), 256-258.
- Clinical diagnosis of cervical dystonia. European Journal of General Practice, 10(2), 73-74.
- View this article in WRRO Short report: Behavioural characterisation of SOX11 syndrome. Research in Developmental Disabilities.
- Why don’t we all use genomic testing?. European Journal of Human Genetics.
- ENROLL-HD for MND?. European Journal of Human Genetics.
- Correction: 2021 at European Journal of Human Genetics: the year in review. European Journal of Human Genetics.
- New year, new issue. European Journal of Human Genetics.
- Dopaminergic Neuronal Imaging in Genetic Parkinson's Disease: Insights into Pathogenesis. PLoS ONE, 8(7), e69190-e69190.
- A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease. PLoS Genetics, 7(6), e1002142-e1002142.
- Neurodegeneration with Brain Iron Accumulation, Wilson Disease, and Manganism, Neurodegeneration (pp. 317-326). John Wiley & Sons, Ltd
- View this article in WRRO Neurodegeneration with brain iron accumulation
Conference proceedings papers
- Hyposmia and cognitive impairment in gaucher disease patients and carriers. JOURNAL OF MEDICAL GENETICS, Vol. 49 (pp S63-S63)
- Micro and Martsolf Syndromes. JOURNAL OF MEDICAL GENETICS, Vol. 48 (pp S36-S36)
- Research group
- Tarub Binshalen (Primary supervisor)
- Louis Stokes (Primary supervisor)
- Rosetrees Trust
- Bailey-Thomas Charitable Fund
- Royal College of Physicians of Edinburgh
- Oakdale Trust
- Sir Hailey-Stewart Trust