Dr Pietro Fratta

Dr Pietro FrattaTel: 020 3448 3899
Fax: 020 3448 3111
Email: pietro.fratta@nhs.net

National Hospital for Neurology and Neurosurgery

Motor Neuron Diseases, Neurology and neurosurgery

Professional background

Dr Pietro Fratta is a Clinician Scientist at the UCL Institute of Neurology and Honorary Consultant Neurologist at the National Hospital for Neurology and Neurosurgery. He currently holds a Lady Edith Wolfson Fellowship, funded by the Medical Research Council (MRC) and Motor Neurone Disease Association (MNDA).

He obtained his PhD at the UCL Institute of Neurology working on models of Motor Neuron Disease. He previously trained in Neurology with a focus on neuromuscular disorders, at the University of Milan and at the University of Southern California (USC).

Research interests

Dr Fratta has longstanding research interest in neuromuscular disorders. His research currently in centered on amyotrophic lateral sclerosis (ALS) and spinal bulbar muscular atrophy (SBMA). His research aims at understanding the basic molecular mechanisms underlying these disorders, focusing on the alteration of RNA metabolism. He is also carrying out studies that aim to use MRI and biomarkers to improve the assessment of disease progression, in order to allow more effective clinical trials. He has previously carried out research on nerve and muscle disorders.

His research is currently funded by the UK Medical Research Council, the UK Motor Neurone Disease Association, the UCLH-NIHR Biomedical Research Centre, the Thierry Latran Research Foundation, the Rosetree Foundation.


Rohrer JD, Isaacs A, Mizlienska M, Mead S, Lashley T, Wray S, Sidle K, Fratta P, Hardy J, Holton J, Revesz T, Rossor MN, Warren JD- C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis. Lancet Nerol, 2014 In press

Bunton-Stasyshyn RK, Saccon RA, Fratta P, Fisher EMC - SOD1 function and its implications for ALS pathology:  New and renascent themes. Neuroscientist, 2014; In press

Fratta P*, Polke JM, Newcombe J, Mizielinska S, Lashley T, Poulter M, Beck J, Preza E, Devoy A, Sidle K, Howard R, Malaspina A, Orrell RW, Clarke J, Lu CH, Mok K, Collins T, Shoaii M, Nanji T, Wray S, Adamson G, Pittman A, Renton AE, Traynor BJ, Sweeney MG, Revesz T, Houlden H, Mead S, Isaacs AM, Fisher EM. – Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion. Neurobiol Aging. 2014; In press

Manole A, Fratta P, Houlden H. Recent advances in bulbar syndromes: genetic causes and disease mechanisms. Curr Opin Neurol. 2014; In press

Mizielinska S, Grönke S, Niccoli T, Ridler CE, Clayton EL, Devoy A, Moens T, Norona FE, Woollacott IO, Pietrzyk J, Cleverley K, Nicoll AJ, Pickering-Brown S, Dols J, Cabecinha M, Hendrich O, Fratta P, Fisher EM, Partridge L, Isaacs AM. C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins. Science. 2014; In press

Corrochano-Sanchez S, Männikkö R, Joyce PI, McGoldrick P, Wettstein J, Lassi G, Raja Rayan DL, Blanco G, Quinn C, Liavas A, Lionikas A, Amio N, Dick J, G Heally EG, Stewart M, Carter S, Hutchinson M, Bentley L, Fratta P, Cortese A, CoxR, DM Brown SDM, Tucci V, Wackerhage H, A. Amato AA, Greensmith L, Koltzenburg M, G. Hanna MG and Acevedo-Arozena A. –  Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis. Brain 2014; In press

Lu CH, Petzold A, Topping J, Allen K, Macdonald-Wallis C, Clarke J, Pearce N, Kuhle J, GIovannoni G, Fratta P, Sidle K, Fish M, Orrell R, Howard R,  Greensmith L, Malaspina A Plasma neurofilament heavy chain levels and disease progression in Amyotrophic Lateral Sclerosis: Insights from a longitudinal study J Neurol Neurosurg Psychiatry 2014; In press

Fratta P*, Nirmalananthan N, Masset L, Skorupinska I, Collins T, Cortese A, Pemble S, Malaspina A, Fisher E, Greensmith L, Hanna M - Correlation of clinical and molecular features in spinal bulbar muscular atrophy – Neurology 2014; 10;82(23):2077-84

Johnson JO, Pioro EP, Boehringer A, Chia R, Feit H, Renton AE, Pliner HA, Abramzon Y, Marangi G, Winborn BJ, Gibbs JR, Nalls MA, Morgan S, Shoai M, Hardy J, Pittman A, Orrell RW, Malaspina A, Sidle KC, Fratta P, Harms MB, Baloh RH, Pestronk A, Weihl CC, Rogaeva E, Zinman L, Drory VE, Borghero G, Mora G, Calvo A, Rothstein JD; ITALSGEN Consortium, Drepper C, Sendtner M, Singleton AB, Taylor JP, Cookson MR, Restagno G, Sabatelli M, Bowser R, Chiò A, Traynor BJ. Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nat Neurosci. 2014; 664-6

Cortese A, Plagnol V, Brady S, Simone R, Lashley T, Thorne T, Stumpf M, Acevedo-Arozena A,  deSilva R, Greensmith L, Holton J, Hanna MG, Fisher EMC, Fratta P* - Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy - Neurobiol Aging. 2014; 35:1491-8

Fratta P*, Charnock J, Collins T, Devoy A, Howard R, Malaspina A, Orrell R, Sidle K, Clarke J, Shoai M, Lu C, Hardy J, Plagnol V, Fisher EMC - Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis - J Neurol Neurosurg Psychiatry 2014;85:506-8

Ricketts T, McGoldrick, Fratta P, Kent R, Phatak V, Brandner S, Greensmith L, Acevedo-Arozena A, Fisher EMC - A nonsense mutation in mouse Tardbp affects TDP43 alternative splicing activity and 5 causes limb-clasping and body tone defects - PLoS One, 2014 21;9:e85962

Cortese A, Tucci A, Piccolo G, Galimberti C, Fratta P, Marchioni E, Grampa G, Cereda C, Grieco G, Ricca I, Pittman A, Ciscato P, Napoli L, Lucchini V, Ripolone M, Violano R, Fagiolari G, Mole SE, Hardy J, Moglia A, Moggio M - Novel CLN3 mutation causing autophagic vacuolar myopathy – Neurology 2014;82:2072-6

Mizielinska S, Lashley T, Norona FE, Clayton EL, Ridler CE, Fratta P, Isaacs AM - C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci - Acta Neuropathol. 2013; 126:845-57

Fratta P*, Poulter M, Rohrer JD, Lashley T,  Beck J, Polke JM, Ryan N, Hensman D, Mizielinska S, Lai MC, Fisher EMC, Revesz T , Warren JD, Collinge C, Isaacs AM and Mead S* - Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia - Acta Neuropath 2013; 126: 401–409

Fratta P*, Collins T, Pemble S, Nethisinghe S, Devoy A, Giunti P, Sweeney MG, Hanna MG, Fisher EMC - Sequencing analysis of the SBMA CAG expansion reveals absence of repeat interruptions - Neurobiol Aging. 2013 – 35:443.e1-3

Fratta P, Hanna MG, Fisher EMC, Sidle K - An unusual presentation for ALS: facial diplegia - Muscle Nerve 2013; 48:994-5

Saccon RA, Bunton-Stasyshyn RKA, Fisher EMC*, Fratta P* - Is SOD1 loss of function involved in amyotrophic lateral sclerosis? - Brain 2013; 136:2342-58

Fratta P* - Antisense makes sense for amyotrophic lateral sclerosis - Lancet Neurol 2013; 12: 416–417

Thorne T, Fratta P, Hanna MG, Cortese A, Plagnol A, Fisher EM, Stumpf MPH - Graphical modelling of molecular networks underlying sporadic Inclusion Body Myositis - Mol Biosyst 2013; 9: 1736

Beck J, Poulter M, Hensman D, Rohrer J, Mahoney C, Adamson G, Fratta P, Orrell R, Malaspina A, Rowe J, Brown J, Hodges J, Sidle K, Polke J, Houlden H, Campbell T, Uphill J, Borg A, Schott J, Fox N, Rossor M, Tabrizi SJ, Isaacs A, Hardy J, Warren J, Collinge J, Mead S - Large C9orf72 hexanucleotide repeat expansion mutations defined by Southern blot are indistinguishable in several neurodegenerative diseases and the healthy population – Am J Hum Genet 2013 92:345-53

Fratta P, Mizielinska S, Nicoll AJ, Zloh M, Fisher EMC, Parkinson GN, & Isaacs AM - C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes - Sci Rep. 2012; 2:1016

Fratta P*, Malik B, Gray A, La Spada AR, Hanna MG, Fisher EM, Greensmith L - FUS is not dysregulated by the spinal bulbar muscular atrophy androgen receptor polyglutamine repeat expansion - Neurobiol Aging. 2012; 34:1516.e17-9

Joyce PI, Fratta P, Fisher EM, Acevedo-Arozena A - SOD1 and TDP-43 animal models of amyotrophic lateral sclerosis: recent advances in understanding disease toward the development of clinical treatments - Mamm Genome. 2011; 22: 420-48

Fratta P, Saveri P, Zambroni D, Ferri C, Tinelli E, Messing A, D'Antonio M, Feltri ML, Wrabetz L - P0S63del impedes the arrival of wildtype P0 glycoprotein to myelin in CMT1B mice - Hum Mol Genet. 2011; 20:2081-90

Nishimura AL, Zupunski V, Troakes C, Kathe C, Fratta P, Howell M, Gallo JM, Hortobágyi T, Shaw CE, Rogelj B - Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration - Brain. 2010; 133:1763-71.

Wrabetz L, D’Antonio M, Pennuto M, Dati G, Tinelli E, Fratta P, Previtali S, Imperiale D, Zielasek J, Toyka K,  Avita R, Kirschner D, Messing A, Feltr MLi, Quattrini A - Different intracellular pathomechanisms produce diverse MPZ-neuropathies in transgenic mice - J Neuroscience 2006; 26:2358-68

Fratta P, Engel WK, McFerrin J, Davies KJ, Lin S, and  Askanas V - Proteasome inhibition and aggresome formation in sporadic inclusion-body myositis and in amyloid-beta precursor protein-overexpressing cultured human muscle fibers - Am J Pathol. 2005; 167:517-26

Fratta P, Engel WK, Van Leeuwen FW, Hol EM, Vattemi G and Askanas V - Mutant ubiquitin UBB+1 is accumulated in sporadic inclusion-body myositis muscle fibers - Neurology. 2004;63:1114-7

*Corresponding author

GMC/GDC number: 7035430