Dr Stephen Mullin

Dr Stephen Mullin

Clinical Lectureship In Neurology

Peninsula Medical School (Faculty of Health)

I am a neurologist and clinical academic with a research interest in Parkinson disease. My primary interest is the genetic and clinical stratification of the risk of Parkinson disease for targeting of novel neuroprotective compounds. I also have expertise in clinical trial design and implementation and internet based clinical assessment in Parkinson disease. To date the majority of my research has centered on the glucocerebrosidase (GBA) pathway, numerically the most significant genetic risk factor for Parkinson disease. This included the day to day running of a phase II clinical trial of ambroxol, a putative neuroprotective and small molecular chaperone of the glucocerebrosidase enzyme (GCase). Additionally I jointly run an internet based cohort study, Rapsodi, which aims to stratify GBA mutations carriers without Parkinson disease in terms of their disease risk using clinical, genetic and biochemical parameters. The ultimate of this study is to provide a cost effective platform for targeting of future neuroprotective compounds.


BSc. Medical Sciences, University College London, 2006.

MBBS. Medicine, Imperial College London, 2008.

MRCP, Royal College of Physicians, 2012 .

Molecular Neurology and Therapeutics course, Wellcome Trust, 2014.

Advanced course is epidemiology and statistics, London School of Hygiene and Tropical Medicine, 2017.

PhD. Neuroscience, University College London, 2018

Specialty Certificate Examination in Neurology, Royal College of Physicians, 2019

Key publications

Key publications are highlighted

Mullin S, Smith L, Lee K, D’Souza G, Woodgate P, Elflein J, Hällqvist J, Toffoli M, Streeter A & Hosking J 2020 'Ambroxol for the Treatment of Patients With Parkinson Disease With and Without Glucocerebrosidase Gene Mutations' JAMA Neurology , DOI PEARL
Mullin S, Beavan M, Bestwick J, McNeill A, Proukakis C, Cox T, Hughes D, Mehta A, Zetterberg H & Schapira AHV 2019 'Evolution and clustering of prodromal parkinsonian features in GBA1 carriers' Movement Disorders 34, (9) 1365-1373 , DOI
Avenali M, Toffoli M, Mullin S, McNeil A, Hughes DA, Mehta A, Blandini F & Schapira AHV 2019 'Evolution of prodromal parkinsonian features in a cohort of GBA mutation-positive individuals: a 6-year longitudinal study' Journal of Neurology, Neurosurgery and Psychiatry , DOI PEARL
Leija-Salazar M, Sedlazeck FJ, Toffoli M, Mullin S, Mokretar K, Athanasopoulou M, Donald A, Sharma R, Hughes D & Schapira AHV 2019 'Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION' Molecular Genetics and Genomic Medicine 7, (3) e564-e564 , DOI PEARL
Blandini F, Cilia R, Cerri S, Pezzoli G, Schapira AHV, Mullin S & Lanciego JL 2018 'Glucocerebrosidase mutations and synucleinopathies: Toward a model of precision medicine' Movement Disorders 34, (1) 9-21 , DOI
Mullin S, Hughes D, Mehta A & Schapira AHV 2018 'Neurological effects of glucocerebrosidase gene mutations' European Journal of Neurology 26, (3) 388-e29 , DOI PEARL
Pacei F, Quilici L, Mullin S, Innocenti A, Valvassori L, Nardone R & Bet L 2018 'Web of the carotid artery: An under-recognized cause of ischemic stroke' Journal of Clinical Neuroscience 50, 122-123 , DOI
Arkadir D, Dinur T, Mullin S, Mehta A, Baris HN, Alcalay RN & Zimran A 2018 'Trio approach reveals higher risk of PD in carriers of severe vs. mild GBA mutations' Blood Cells, Molecules, and Diseases 68, 115-116 , DOI
Smith L, Mullin S & Schapira AHV 2017 'Insights into the structural biology of Gaucher disease' Experimental Neurology 298, 180-190 , DOI
Pakpoor J, Noyce A, Goldacre R, Selkihova M, Mullin S, Schrag A, Lees A & Goldacre M 2017 'Viral hepatitis and Parkinson disease' Neurology 88, (17) 1630-1633 , DOI
Mullin S & Schapira A 2015 'The genetics of Parkinson's disease' British Medical Bulletin 114, (1) 39-52 , DOI
Mullin S & Schapira AHV 2015 'Pathogenic Mechanisms of Neurodegeneration in Parkinson Disease' Neurologic Clinics 33, (1) 1-17 , DOI
Porcari R, Proukakis C, Waudby CA, Bolognesi B, Mangione PP, Paton JFS, Mullin S, Cabrita LD, Penco A & Relini A 2014 'The H50Q Mutation Induces a 10-fold Decrease in the Solubility of α-Synuclein' Journal of Biological Chemistry 290, (4) 2395-2404 , DOI
Nageshwaran S, Mullin S, Cowley P, Dorward N, Mort D & Weil RS 2013 'Subarachnoid haemorrhage as the presenting feature of lumbar spinal arteriovenous malformation' Practical Neurology 13, (5) 319-321 , DOI
Mullin S & Schapira A 2013 'α-Synuclein and Mitochondrial Dysfunction in Parkinson’s Disease' Molecular Neurobiology 47, (2) 587-597 , DOI
Mullin S, Platts A, Randhawa K & Watts P 2012 'Cerebral vasospasm and anterior circulation stroke secondary to an exacerbation of hereditary corproporphyria' Practical Neurology 12, (6) 384-387 , DOI
Pacei F, Mullin S, Colombo C, Viganò S & Bet L 2012 'A case of Wernicke’s encephalopathy due to oesophageal achalasia' Neurological Sciences 34, (5) 799-800 , DOI
Mullin S, Temu A, Kalluvya S, Grant A & Manji H 2011 'High prevalence of distal sensory polyneuropathy in antiretroviral-treated and untreated people with HIV in Tanzania' Tropical Medicine & International Health 16, (10) 1291-1296 , DOI
Leija-Salazar M, Sedlazeck FJ, Mokretar K, Mullin S, Toffoli M, Athanasopoulou M, Donald A, Sharma R, Hughes D & Schapira AH 0 'Detection of GBA missense mutations and other variants using the Oxford Nanopore MinION' , DOI
Conference Papers
Mullin S, Platts A & Randhawa K 2012 'Cerebral Vasospasm and Anterior Circulation Stroke Secondary to an Exacerbation of Hereditary Corproporphyria - First Reported Case' 1-/-0/19001-/-0/1900S10-S10

Reports & invited lectures

High prevalence of distal sensory polyneuropathy in antiretroviral-treated and untreated people with HIV in Tanzania World Congress of Neurology November 2012, Marrakesh

Seeing the wood through the trees: Which GBA mutation carriers get Parkinson’s disease, when and why? Leonard Wolfson annual neurodegeneration symposium London, February 2016

Gaucher and Parkinson’s disease: Questions and opportunities. European Society of Lysosomal storage diseases, Vienna, October 2016

GBA Parkinson’s: a prototype for targeted neuroprotection in idiopathic Parkinson’s disease Parkinson’s UK annual conference, Leeds, November 2016

Novel therapeutic approaches in GBA PD, Italian Society of Neuroscience annual meeting, Ischia, Italy, October 2017