Dr Stephen Mullin
Profiles

Dr Stephen Mullin

Associate Professor and Honorary Consultant in Neurology

Peninsula Medical School (Faculty of Health)

Biography

Biography

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 (http://rapsodistudy.com), which aims to stratify GBA mutations carriers without Parkinson disease in terms of their disease risk using clinical, genetic and biochemical parameters. I also run a http://pdfrontline.com, a portal of genotyping of those with Parkinson disease for GBA and LRRK2. The ultimate of these studies is provide a cost effective platform for targeting of future neuroprotective compounds.

I have a burgeoning interest in the use of machine learning and artificial intelligence to improve care, solve clinical problems and answer mechanistic question in relation to Parkinson's and other disease areas. I head an ongoing project which aims to use routine imaging data, collected from across the South West Peninsula, to develop novel biomarkers of the development of Parkinson's. 

Qualifications

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

Postgraduate Diploma in Genomic Medicine, University of Exeter, 2021

Roles on external bodies

Chair of infrastructure working committee and member of steering committee of ACT-PD multi arm multi drug clinical trial development consortium - ACT PD consortium

Scientific advisory board member - Rostock International Parkinson's Disease Study (ROPAD) 

Neurology SCE exam standard setting committee - Royal College of Physicians

Member of the Charity Operational Group - Plymouth Hospitals Charity

Member NIHR Health Technology Assessment (HTA) Prioritisation Committee: Hospital Based Care.

Key publications

Mullin S, Stokholm MG, Hughes D, Mehta A, Parbo P, Hinz R, Pavese N, Brooks DJ & Schapira AHV (2020) 'Brain Microglial Activation Increased in Glucocerebrosidase ( GBA ) Mutation Carriers without Parkinson's disease' Movement Disorders 36, (3) 774-779 , DOI Open access
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 Open access
View all publications
Research

Research

Research groups

Publications

Publications

Key publications

Mullin S, Stokholm MG, Hughes D, Mehta A, Parbo P, Hinz R, Pavese N, Brooks DJ & Schapira AHV (2020) 'Brain Microglial Activation Increased in Glucocerebrosidase ( GBA ) Mutation Carriers without Parkinson's disease' Movement Disorders 36, (3) 774-779 , DOI Open access
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 Open access

Key publications are highlighted

Journals
Articles
Toffoli M, Chen X, Sedlazeck FJ, Lee C-Y, Mullin S, Higgins A, Koletsi S, Garcia-Segura ME, Sammler E & Scholz SW (2022) 'Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson's disease-associated GBA gene' Commun Biol 5, (1) 670-670 Author Site , DOI Open access
Higgins AL, Toffoli M, Mullin S, Lee C-Y, Koletsi S, Avenali M, Blandini F & Schapira AHV (2021) 'The remote assessment of parkinsonism supporting the ongoing development of interventions in Gaucher disease' Neurodegenerative Disease Management 11, (6) 451-458 , DOI Open access
Avenali M, Cerri S, Cerami C, Crespi C, Gegg M, Mullin S, Toffoli M, Hughes D, Valente E & Tassorelli C (2021) 'Combined GCASE/ALPHA-synuclein pattern may identify specific prodomal PD patterns in GBA carriers: A cluster analysis study' Journal of the Neurological Sciences 429, 119455-119455 , DOI
Day JO & Mullin S (2021) 'The Genetics of Parkinson’s Disease and Implications for Clinical Practice' Genes 12, (7) 1006-1006 , DOI Open access
Toffoli M, Higgins A, Lee C, Koletsi S, Chen X, Eberle M, Sedlazeck FJ, Mullin S, Proukakis C & Schapira AHV (2021) 'Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease' Movement Disorders 36, (6) 1456-1460 , DOI Open access
Talbot J, Stuckey R, Crawford L, Weatherby S & Mullin S (2021) 'Improvements in pain, medication use and quality of life in onabotulinumtoxinA-resistant chronic migraine patients following erenumab treatment – real world outcomes' The Journal of Headache and Pain 22, (1) , DOI Open access
Mullin S, Stokholm MG, Hughes D, Mehta A, Parbo P, Hinz R, Pavese N, Brooks DJ & Schapira AHV (2020) 'Brain Microglial Activation Increased in Glucocerebrosidase ( GBA ) Mutation Carriers without Parkinson's disease' Movement Disorders 36, (3) 774-779 , DOI Open access
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 Open access
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 Open access
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 Open access
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 Open access
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 Open access
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 (2015) 'The H50Q Mutation Induces a 10-fold Decrease in the Solubility of α-Synuclein' Journal of Biological Chemistry 290, (4) 2395-2404 , DOI Open access
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
Bargiela D, Mullin S, Kalluvya S & Manji H (2012) '1218 HIV distal sensory polyneuropathy in Sub-Saharan Africa: an evolving epidemic' Journal of Neurology, Neurosurgery & Psychiatry 83, (3) e1.191-e1 , 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
Mullin S, Temu A, Kalluvya S, Grant A & Manji H (2010) 'PAF63 High prevalence of distal sensory polyneuropathy in treated and untreated Tanzanians with HIV. A cross-sectional survey' Journal of Neurology, Neurosurgery & Psychiatry 81, (11) e17-e17 , DOI
Conference Papers
Gorst T, Dominey T, Whipps J, Whipps S, Cooke J, Mullin S, Maramba I, Edwards E & Carroll C (2020) 'Not so simple: the challenge of developing a non-motor symptoms app (NMS Assist) for people with Parkinson's (PwP)' S652-S652 Open access
Dominey T, Mullin S, Edwards E, Whipps J, Whipps S & Carroll C (2019) 'USABILITY TESTING OF A NON-MOTOR SYMPTOM APP IN PD' E47-E47 , DOI Open access
Mullin S, Platts A & Randhawa K (2012) 'Cerebral Vasospasm and Anterior Circulation Stroke Secondary to an Exacerbation of Hereditary Corproporphyria - First Reported Case' S10-S10
Personal

Personal

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

Disease modifying therapies for Parkinson's disease - MOViews Accamedia Limpe webinars, Pavia, Italy, 2020

Webinar – Genetic markers and the progression of Parkinson’s - Cure Parkinsons, London, UK, May 2021

Webinar - Understanding the genetic basis of Parkinson’s disease and its implications for Clinical Practice - Parkinson's 2021 Conference, November 2021



Links

http://rapsodistudy.com

http://pdfrontline.com

http://twitter.com/ParkinsonsDoc