Professional background

Dr Richard Orrell is an associate professor and consultant neurologist, with longstanding clinical and research interests in the wide range of neuromuscular disorders. This includes genetic, inflammatory, and degenerative conditions of muscle and nerve.

He is particularly interested in motor neuron diseases, including amyotrophic lateral sclerosis. He provides a clinical service in neuromuscular disorders, including his role as co-director of the Motor Neuron Disease Care and Research Centre at the National Hospital for Neurology and Neurosurgery, and motor neuron disease, muscle and nerve disorder clinics at the Royal Free Hospital.

Research interests

Dr Orrell is associate professor in clinical neuroscience at UCL Queen Square Institute of Neurology.

His research theme is focussed on neuromuscular disorders, neurodegenerative disorders, and neurogenetics.

Within neuromuscular disorders He is interested in motor neuron disease / amyotrophic lateral sclerosis, muscular dystrophies, neuropathies, and related conditions.


Orrell RW, Lilford RJ. Chorionic villus sampling and rare side effects. Will a randomised controlled trial detect them? International Journal of Gynaecology and Obstetrics 1990;32:29-34.

Orrell RW, Tromans AM, Burt AA. Myotonic dystrophy and traumatic quadriplegia. Paraplegia 1991;29:419-422.

Orrell RW, Omer S, Burt AA, Galvin M. Pseudotumour cerebri and paraproteinaemia. Leukemia and Lymphoma 1991;5:211-3.

Orrell RW, Guthrie JA, Lamb JT. Nose blowing and CSF rhinorrhoea. Lancet 1991;i:804.

Orrell RW, Johnson MH. Plasma viscosity and the diagnosis of giant cell arteritis. British Journal of Clinical Practice 1993;47:71-2.

Orrell RW, Marsden CD. The neck-tongue syndrome. Journal of Neurology Neurosurgery and Psychiatry 1994;57:348-352.

Orrell RW, Lane RJM, Maitland J, Leslie RDG Antibodies to glutamic acid decarboxylase as predictors of insulin-dependent diabetes mellitus. Lancet 1994;344:267.

Orrell RW, deBelleroche J. Superoxide dismutase and amyotrophic lateral sclerosis. Lancet 1994;344:1651-1652.

Orrell RW, Lane RJM, Guiloff RJ. Recent developments in the drug treatment of motor neurone disease. British Medical Journal 1994;309:140-141.

Orrell RW, James-Galton M, Stevens JM, Rossor MN. Cerebral achromatopsia as a presentation of Trousseau's syndrome. Postgraduate Medical Journal 1995;71:44-46.

Orrell RW, Amrolia PJ, Heald A, Cleland PG, Owen JS, Morgan-Hughes JA, Harding AE, Marsden CD. Acanthocytosis, retinitis pigmentosa and pallidal degeneration: a report of three patients including the second reported case with hypoprebetalipoproteinaemia (HARP syndrome). Neurology 1995;45:487-492.

Enayat ZE, Orrell RW, Claus A, Ludolph A, Bachus R, Brockmuller J, Chaudhuri R, Radunovic A, Shaw C, Wilkinson I, King A, Swash MJ, de Belleroche J, Leigh PN, Powell J. Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis. Human Molecular Genetics 1995;4:1239-1240.

Orrell RW, Peatfield R. Collins CE, Woodrow DF, Moss J, Press M, Lane RJM. Myopathy in acquired partial lipodystrophy. Clinical Neurology and Neurosurgery 1995; 97:181-186.

Shaunak S, Orrell RW, O'Sullivan E, Hawken MB, Lane RJM, Henderson L, Kennard C. Oculomotor function in amyotrophic lateral sclerosis: evidence for frontal impairment. Annals of Neurology 1995;38:38-44.

Orrell RW, Woodrow D, Barrett MC, Press M, Dick DJ, Rowe RCG, Lane RJM. Testosterone deficiency myopathy. Journal of the Royal Society of Medicine 1995;88:454-456.

Orrell RW, King AW, Hilton DA, Campbell MJ, Lane RJM, deBelleroche JS. Familial amyotrophic lateral sclerosis with a mutation of SOD-1: intrafamilial heterogeneity of disease duration associated with neurofibrillary tangles. Journal of Neurology, Neurosurgery and Psychiatry 1995;59:266-270.

Orrell RW, King AW, Lane RJM, deBelleroche JS. Investigation of a null mutation of the CNTF gene in familial amyotrophic lateral sclerosis. Journal of the Neurological Sciences 1995;132:126-128.

Orrell RW. The genetics of motor neuron disease. Current Medical Literature - Neurology and Neurosurgery 1995;11:95-102.

Orrell RW, King AW, deBelleroche JS. Parental influence on inheritance of amyotrophic lateral sclerosis. Lancet 1995;345:391-392.

Orrell RW, de Belleroche J, Marklund S, Bowe F, Hallewell R. A novel SOD mutant and ALS. Nature 1995;374:504-505.

Orrell RW, de Belleroche J, Marklund SL, Bowe FA, Hallewell RA. Toxic mutants in Charcot's sclerosis. Nature 1995;378:343.

deBelleroche J, Orrell R, King A. Familial amyotrophic lateral sclerosis/motor neurone disease (FALS): A review of current developments. Journal of Medical Genetics 1995;32:841-847.

Lacomblez L, Bensimon G, Leigh PN, Guillet P, Meininger V, for the Amyotrophic Lateral Sclerosis/Riluzole Study Group II. Dose-ranging study of riluzole in amyotrophic lateral sclerosis. Lancet 1996;347:1425-1431. (member of ALS Study Group II)

Orrell RW, Habgood J, Rudge P, Lane RJM, deBelleroche JS. Difficulties in distinguishing sporadic from familial amyotrophic lateral sclerosis. Annals of Neurology 1996;39:810-812.

Orrell RW, Shakir R, Lane RJM, Kennard C, Wade JPH, Poser CM. Grand Rounds - Acute disseminated encephalomyelitis: Distinction from multiple sclerosis. British Medical Journal 1996;313:802-804.

deBelleroche J, Orrell RW, Virgo L. Amyotrophic lateral sclerosis: recent advances in understanding disease mechanisms. Journal of Neuropathology and Experimental Neurology 1996;55:749-759.

Hosler BA, Nicholson GA, Sapp PC, Chin W, Orrell RW, deBelleroche JS, Esteban J, Hayward LJ, McKenna-Yasek D, Yeung L, Cherryson AK, Dench JE, Wilton SD, Laing NG, Horvitz HR, Brown RH. Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis. Neuromuscular Disorders 1996;6:361-366.

Orrell RW, Habgood JJ, Shepherd DI, Donnai D, deBelleroche J. A novel mutation of SOD-1 in familial amyotrophic lateral sclerosis. European Journal of Neurology 1997;4:48-51.

Orrell RW, Habgood JJ, deBelleroche JS, Lane RJM. The relationship of spinal muscular atrophy to motor neuron disease: Investigation of SMN and NAIP gene deletions in sporadic and familial ALS. Journal of the Neurological Sciences 1997;145:55-61.

Orrell RW, Habgood JJ, Gardiner I, King AW, Bowe FA, Hallewell RA, Marklund SL, Greenwood J, Lane RJM, deBelleroche J. Clinical and functional investigation of 10 missense mutations and a novel frameshift insertion mutation of the gene for copper-zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis. Neurology 1997;48:746-751.

Orrell RW, Marklund S, deBelleroche JS. Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser). Journal of the Neurological Sciences 1997;153:46-49.

Lane RJM, Carey N, Orrell RW, Moxley III, RT. Claude Monet's vision. Lancet 1997;349:734.

Orrell RW, Jurkat-Rott K, Lehmann-Horn F, Lane RJM. "Familial cramp" due to potassium-aggravated myotonia. Journal of Neurology, Neurosurgery and Psychiatry 1998;65:569-572.

Orrell RW, Johnston HM, Gibson C, Cass RM, Griggs RC. Spontaneous abdominal hematoma in dermatomyositis. Muscle and Nerve 1998;21:1800-1803.

deBelleroche J, Orrell RW, Virgo L, Habgood J, Gardiner IM, Malaspina A, Kaushik N, Mitchell J, Greenwood J. Copper, zinc superoxide dismutase (SOD1) and its role in neuronal function and disease with particular relevance to motor neurone disease/amyotrophic lateral sclerosis. Biochemical Society Transactions 1998;26:476-80.

Orrell RW, Tawil R, Forrester J, Kissel JT, Mendell JR, Figlewicz DA. Definitive molecular diagnosis of facioscapulohumeral dystrophy. Neurology 1999;52:1822-1826.

Orrell RW, Habgood JJ, Malaspina A, Mitchell J, Gardiner I, Greenwood J, Lane RJM, Hallewell RA, Marklund SL, deBelleroche JS. Clinical characteristics of SOD1 mutations in UK famlies with ALS. J Neurol Sci 1999;169:56-60.

Shaunak S, Orrell R, Henderson L, Kennard C. Saccades and smooth pursuit in myotonic dystrophy. Journal of Neurology 1999;246:600-606.

Orrell RW. Amyotrophic lateral sclerosis: copper/zinc superoxide dismutase (SOD1) gene mutations. Neuromuscular Disorders 2000;10:63-68.

Orrell RW, Figlewicz DA. Clinical implications of the genetics of ALS and other motor neuron disorders. Neurology 2001;57:9-17.

Bradley MD, Orrell RW, Clarke J, Davidson AC, Williams AJ, Kullman DM, Hirsch NP, Howard RS. Outcome of ventilatory support for acute respiratory failure in motor neurone disease. Journal of Neurology, Neurosurgery and Psychiatry 2002;72:752-756.

Bajaj NPS, Waldman A, Orrell RW, Wood N, Bhatia K. Familial adult onset Krabbe’s Disease resembling hereditary spastic paraplegia with normal neuroimaging. Journal of Neurology, Neurosurgery and Psychiatry 2002;72:635-638.

Orrell RW, King RHM, Bowler JV, Ginsberg L. Peripheral nerve granuloma in a patient with tuberculosis. Journal of Neurology, Neurosurgery and Psychiatry 2002;73:769-772.

Orrell RW, Clark AJL. ALADIN, but where’s the genie? Neurology 2002;58:847-848.

Howard RS, Orrell RW. Management of motor neuron disease. Postgraduate Medical Journal 2002;78:736-741.

Orrell RW, Schapira AHV. Mitochondria and amyotrophic lateral sclerosis. International Review of Neurobiology 2002;53:411-426.

Ginsberg L, King RHM, Orrell RW. Nerve biopsy. Practical Neurology 2003;3:306-313.

Figlewicz DA, Orrell RW. The genetics of motor neuron disease. ALS and Other Motor Neuron Disorders 2003;4:225-231.

Kimber TE, Orrell RW, King RHM, Ginsberg L. Pathological findings in a patient with ventilatory failure and chronic inflammatory demyelinating polyneuropathy. Journal of the Peripheral Nervous System 2003;8:13-16.

Hameed M, Orrell RW, Cobbold M, Goldspink G, Harridge SDR. Expression of IGF-1 splice variants in young and old human skeletal muscle after high resistance exercise. Journal of Physiology 2003;547:247-254.

Hameed M, Orrell RW, Cobbold M, Goldspink G, Harridge SDR. Expression of IGF-1 splice variants in young and old human skeletal muscle after high resistance exercise. Clarification. Journal of Physiology 2003;547:995.

Toosy AT, Werring DJ, Orrell RW, Howard RS, King MD, Barker GJ, Miller DH, Thompson AJ. Diffusion tensor imaging detects corticospinal tract involvement at multiple levels in ALS. Journal of Neurology, Neurosurgery and Psychiatry 2003;74:1250-1257.

Abalkhail H, Mitchell J, Habgood J, Orrell RW, de Belleroche J. A new familial amyotrophic lateral sclerosis locus on chromosome 16q12.1-16q12.2. American Journal of Human Genetics 2003;73:383-389.