Profiles
Dr Stephen Mullin
Clinical Lectureship In Neurology
Clinical Trials & Health Research - Institute of Translational & Stratified Medicine (Faculty of Medicine and Dentistry)
Role
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.
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
Mullin S, Temu A, Kalluvya S,Grant A, Manji H. High prevalence of distal sensory polyneuropathy inantiretroviral-treated and untreated people with HIV in Tanzania; Tropical Medicine & International Health2011;16(10):1291-1296.
Bargiela D, Mullin S, Manji H The evolving epidemic ofHIV sensory neuropathy in sub saharan Africa CML Neurology June 2012
Pacei F, Mullin S, Colombo C, Viganò S, Bet L. A case of Wernicke’s encephalopathy due to oesophageal achalasia Neurol Sci. 2013 May;34(5):799-800. doi:10.1007/s10072-012-1136-4. Epub 2012 Jun 24.
Mullin S, Platts A, Randhawa K,Watts P. Cerebral vasospasm and anterior circulation stroke secondary to an exacerbation of hereditarycoproporphyria Pract Neurol. 2012 Dec;12(6):384-7. doi:10.1136/practneurol-2012-000288.
Mullin S, Schapira AH. Alpha synuclein andmitochondrial dysfunction in Parkinson's disease Mol Neurobiol. 2013 Apr;47(2):587-97. doi:10.1007/s12035-013-8394-x. Epub 2013 Jan 30.
Nageshwaran S, Mullin S, Cowley P, Dorward N, Mort D, Weil RS. Subarachnoid haemorrhage as the presentingsymptom of lumbar spinal arterio-venous malformation Pract Neurol. 2013 Oct;13(5):319-21. doi:10.1136/practneurol-2012-000456. Epub 2013 Mar 26.
Porcari R, Proukakis C, WaudbyCA, Bolognesi B, Mangione PP, Paton JF, Mullin S, Cabrita LD, Penco A, ReliniA, Verona G, Vendruscolo M, Stoppini M, Tartaglia GG, Camilloni C,Christodoulou J1, Schapira AH, Bellotti V. The H50Q mutation inducesa tenfold decrease in the solubility of α-synuclein. J Biol Chem. 2014 Dec 10.pii: jbc.M114.610527.
Mullin S, Schapira AH, Pathogenic Mechanisms of Neurodegenerationin Parkinson’s Disease Neurol Clin.2015 Feb;33(1):1-17. doi: 10.1016/j.ncl.2014.09.010.
Mullin S, Schapira AH, The genetics of Parkinson’s disease Br Med Bull . Br Med Bull. 2015 Jun;114(1):39-52. doi:10.1093/bmb/ldv022. Epub 2015 May 20.
Arkadir D , Dinur T, Mullin S, Mehta A, Baris HN, Alcalay RN, Zimran A. Trio approach reveals higher risk of PD in carriers of severe vs. mild GBA mutations. Blood Cells Mol Dis. 2018 Feb;68:115-116. doi: 10.1016/j.bcmd.2016.11.007. Epub 2016 Nov 12.
Pakpoor J, Noyce A, Goldacre R, Selikhova M, Mullin S, Schrag A, Lees A, and Goldacre ViralHepatitis and Parkinson's Disease: A National Record-Linkage Study Neurology January 2017
Reports & invited lectures
High prevalence of distal sensory polyneuropathy in antiretroviral-treated and untreated people with HIV in Tanzania. World Congress of Neurology, Marrakesh. November 2012.
Seeing the wood through the trees: Which GBA mutation carriers get Parkinson’s disease, when and why? Leonard Wolfson 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.
Neuonopathic Gaucher disease and Parkinson’s, two sides of the same coin?
Preceptorship in lysosomal storage diseases. Royal Free Hospital, London, July 2017.
GBA-associated Parkinson’s disease: What have we learnt?
Shaping what’s next in LSDs: Hot topics. Shire, London July 2017.
Targeting glucocerebrosidase for disease-modifying treatments in Parkinson’s disease
National Congress of the Italian Neuroscience Society, Ischia. November 2017.