Dr Alisdair McNeill
PhD, MRCP, DCH
Department of Neuroscience
INSIGNEO Senior Clinical Research Fellow
Honorary Consultant in Clinical Genetics at the Sheffield Children's Hospital
+44 114 222 2267
Full contact details
Department of Neuroscience
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 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.
- 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.
- 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.
- 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.
- Neuroferritinopathy: Update on Clinical Features and Pathogenesis. Current Drug Targets, 13(9), 1200-1203.
- PLA2G6 Mutations and Other Rare Causes of Neurodegeneration with Brain Iron Accumulation. Current Drug Targets, 13(9), 1204-1206.
- 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.
- 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.
- 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.
- View this article in WRRO SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect. Brain.
- View this article in WRRO Neurodegeneration with brain iron accumulation
Conference proceedings papers
- Evolution of prodromal parkinsonian features in a cohort of GBA mutation positive individuals: a 6-year longitudinal study.. EUROPEAN JOURNAL OF NEUROLOGY, Vol. 26 (pp 147-147)
- 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)
- Rosetrees Trust
- Bailey-Thomas Charitable Fund
- Royal College of Physicians of Edinburgh
- Oakdale Trust
- Sir Hailey-Stewart Trust