José Ángel Berciano


Cantabria University & Marqués de Valdecilla University Hospital. Santander. Spain

Date of birth: December 4, 1945


Academic and professional position: Professor emeritus, University of Cantabria (UC) since October 1, 2016. From 1974 to 2016, Chair and Head of Neurology, “Marqués de Valdecilla” UniversityHospital, and UC, Santander, Spain.


Research activity and publications: My main line of investigation has been focused on epidemiologic, genetic, clinico-pathological and electrophysiological studies of peripheral neuropathies and ataxias. Under my tutelage, 17 doctoral theses have been performed. I have participated in 21 competitive research projects (PI in 9 of them). I was Editor-in-Chief of Neurología between 1997 and 2004, and Scientific Vice-Director and Director of CIBERNED during 2006-2009 and 2010-2011, respectively. Author or co-author of 425 papers indexed in PubMed (accessed on May 28, 2018) with an “h” index of 46 (Web of Knowledge, accessed on May 28, 2018), and 77 chapter books or books. Ten outstanding papers in the last decade are the following:


  1. Berciano J, Gallardo E, Domínguez-Perles R, Gallardo E, García A, García-Barredo R, Combarros O, Infante J, Illa I. Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype. J Neurol Neurosurg Psychiatry 2008; 79: 205-208.
  2. Berciano J, García A, Villagrá NT, González F, Ramón C, Illa I, Berciano MT, Lafarga M. Severe Guillain-Barré syndrome: sorting out the pathological hallmark in an electrophysiological axonal case. J Peripher Nerv Syst 2009; 14: 54-63.
  3. ZimoĊ„ M, Baets J, Auer-Grumbach M, Berciano J, Garcia A, Lopez-Laso E, Merlini L, Hilton-Jones D, McEntagart M, Crosby AH, Barisic N, Boltshauser E, Shaw CE, Landouré G, Ludlow CL, Gaudet R, Houlden H, Reilly MM, Fischbeck KH, Sumner CJ, Timmerman V, Jordanova A, Jonghe PD. Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain 2010; 133: 1798-1809.
  4. Berciano J, Gallardo E, García A, Pelayo-Negro AL, Infante J, Combarros O. New insights into the pathophysiology of pes cavus in Charcot-Marie-Tooth disease type 1A duplication. J Neurol 2011; 258: 1594-602.
  5. Berciano J, García A, Infante J. Peripheral nerve involvement in hereditary cerebellar and multisystem degenerative disorders. Handb Clin Neurol 2013; 115: 907-32.
  6. Berciano J, García A, Peeters K, Gallardo E, De Vriendt E, Pelayo-Negro AL, Infante J, Jordanova A. NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype. J Neurol2015; 262: 1289-300.
  7. Gallardo E, Sedano MJ, Orizaola P, Sánchez-Juan P, González-Suárez A, García A, Terán-Villagrá N, Ruiz-Soto M, Álvaro RL, Berciano MT, Lafarga M, Berciano J. Spinal nerve involvement in early Guillain-Barré syndrome: A clinico-electrophysiological, ultrasonographic and pathological study. Clin Neurophysiol 2015; 126: 810-9.
  8. Peeters K*, Palaima P, Pelayo-Negro AL, García A, Gallardo E, García-Barredo R, Mateiu L, Baets J, Menten B, De Vriendt E, De Jonghe P, Timmerman V, Infante J, Berciano J*, Jordanova A. Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1. Ann Neurol 2016; 80:823-833. *KP and *JB contributed equally to this paper.
  9. Berciano J, Sedano MJ, Pelayo-Negro AL, García A, Orizaola P, Gallardo E, Lafarga M, Berciano MT, Jacobs BC. Proximal nerve lesions in early Guillain-Barré syndrome: implications for pathogenesis and disease classification. J Neurol 2017; 264: 221-236.
  10. Berciano J, García A, Gallardo E, Peeters K, Pelayo-Negro AL, Álvarez-Paradelo S, Gazulla J, Martínez-Tames M, Infante J, Jordanova A. Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review. J Neurol 2017; 264: 1655-1677.