Giovanni Meola MD

Dr. Meola is a clinician who has been interested in the field of neuromuscular disorders since 1975. In particular he is an expert in the diagnosis and management of myotonic dystrophies and non-dystrophic myotonias. He is the chairman of the neuromuscular center at IRCCS Policlinico San Donato, National referral center for myotonic dystrophies and in particular for the DM2.

As researcher he developed the diagnosis of DM2 on muscle biopsy by FISH and on muscle channelopathies by specific clinical and genetic protocols. He has been the keynote lecturer or chairman at several international meetings.

As member of the International Committee IDMC, he organized IDMC-6 (International Myotonic Dystrophy Consortium Meeting–6); Milan Sept 12-15, 2007. He also organized two Workshops “Cerebral Involvement in Myotonic Dystrophy type I and II”; Paris, Institute de Myologie – Hôpital la Salpetrière; on January 2010 and February 2011. He also attended ENMC workshops since 1997.

He has an interest in skeletal muscle channelopathies and is at IRCCS Policlinico San Donato the National referral center for skeletal muscle channelopathies.

Faculty Appointment: 1975-1985 Assistant Professor of Neurology, University of Milan, Italy.

1985-2000 Associate Professor of Neurology, University of Milan, Italy.

1992-1994 Director of Division of Neurology, IRCSS Policlinico San Donato, Milan, Italy.

1994-present Chairman of Dept of Neurology and Director Division of Neurology, IRCCS Policlinico San Donato, Milan, Italy.

2001-present Full Professor and Chair of Neurology, University of Milan, Italy.

Fellowships, Award and Honors:

1974 Fellowship from UILDM (Italian Association of Muscular Dystrophy)

1974 Neuromuscular Lab Newcastle General Hospital (Prof. JN Walton).

1-2 /1975 Neuromuscular Lab Hammersmith Hospital (Prof. V Dubowitz)

6/1978 Neuromuscular Lab Newcastle General Hospital (Prof. JN Walton).

1980 Fellowship from UILDM (Italian Association of Muscular Dystrophy)

1-6/ 1980 Huston Merritt Lab – Columbia University – New York (Prof. S. Di Mauro and Prof. AF Miranda).

6 /1981 Huston Merritt Lab – Columbia University – New York (Prof. S. Di Mauro and Prof. AF Miranda).

1/ 1991 Neuromuscular Lab Montreal Neurological Institute (Prof. G. Karpati) - Hopital de l’Enfant Jesus, Quebec, Canada (Prof. JP Tremblay).

1/ 1993 External Examiner: Claude Lebreque’s PhD Neurobiological Thesis in 1993, for Laval University.

From 5/1995 Visiting Professor University of Rochester (NY) .

2006 Nominated by University of Göteborg (Sweden) as senior Faculty opponent for the PhD thesis on myotonic dystrophy type 1 (DM1) written by Stephan Winblad.

From 3/2009 Visiting Professor University of Belgrad - Serbia

Selected Peer-reviewed Publications (in chronological order) (Selected from 168 peer-reviewed publications and 23 chapters)

*Sansone V, Griggs RC, Meola G, Ptacek LJ, Barohn R, Iannaccone S, Bryan W, Baker N, Janas SJ, Scott W, Ririe D, Tawil R. Andersen’s syndrome: a distinct periodic paralysis. Ann Neurol, 42;305-312, 1997.

*Meola G, Sansone V, Perani D, Colleluori A, Cappa S, Cotelli M, Fazio F, Thornton CA, Moxley RT. “Reduced cerebral blood flow and impaired visual-spatial function in proximal myotonic myopathy”. Neurology, 53:1042-1050, 1999.

*Meola G. Clinical and genetic heterogeneity in myotonic dystrophies. Muscle Nerve. Invited review. 23:1789-1799,2000

*Meola G. Myotonic dystrophies. Current Opinion in Neurology. 13:519-525,2000

*Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A, Bendahhou S, Kwiecinski H, Fidzianska A, Plaster N, Fu YH, Ptacek LJ, Tawil R. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest 110:381-8, 2002

*Moxley RT 3rd, Meola G, Udd B, Ricker K. Report of the 84th ENMC workshop: PROMM (proximal myotonic myopathy) and other myotonic dystrophy-like syndromes: 2nd workshop. 13-15th October, 2000, Loosdrecht, The Netherlands. Neuromusc Disord 12:306-17, 2002.

*Vihola A, Bassez G, Meola G, Zhang S, Haapasalo H, Paetau A, Mancinelli E, Rouche A, Hogrel JY, LaforA P, Maisonobe T, Pellissier JF, Krahe R, Eymard B, Udd B. Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2. Neurology. 60:1854-7, 2003.

*Bachinski LL, Udd B, Meola G, Sansone V, Bassez G, Eymard B, Thornton CA, Moxley RT, Harper PS, Rogers MT, Jurkat-Rott K, Lehmann-Horn F, Wieser T, Gamez J, Navarro C, Bottani A, Kohler A, Shriver MD, Sallinen R, Wessman M, Zhang S, Wright FA, Krahe R. Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect. Am J Hum Genet. 2003;73:835-48.

*Meola G, Sansone V, Perani D, Scarone S, Cappa S, Dragoni C, Cattaneo E, Cotelli M, Gobbo C, Fazio F, Siciliano G, Mancuso M, Vitelli E, Zhang S, Krahe R, Moxley RT. Executive dysfunction and avoidant personality trait in myotonic dystrophy type 1 (DM-1) and in proximal myotonic myopathy (PROMM/DM-2). Neuromuscul Disord. 2003;13:813-21.

*Sallinen R, Viola A, Bachinski LL, Huoponen K, Haapasalo H, Hackman P, Zhang S, Spirito M, Kalimo H, Meola G, Horelli-Kuitunen N, Wessman M, Krhae R, Udd B. New method for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2). Neuromuscl Disord 2004;14:274-283.

*Meola G, Moxley RT III. Myotonic dystrophy type 2 and related myotonic disorders. J Neurol 2004;251:1173-1182.

*Vicart S, Sternberg D, Fontaine B, Meola G. Human skeletal muscle sodium channelopathies. Neurol Sci 2005;26:194-202.

*Meola G, Sansone V. Cerebral involvement in myotonic dystrophies. Muscle & Nerve 2007;36:294-306

*Tricarico D, Lovaglio S, Rotondo G, Mancinelli E, Meola G, Camerino DC. Acetazolamide prevents vacuolar myopathy in skeletal muscle of K+ -depleted rats. Br J Pharmach 2008;154:183-190.

*Matthews E, Labrum R, Sweeney MG, Sud R, Haworth A, Chinnery PF, Meola G, Schorge S, Kullmann DM, Davis MB, Hanna MG. Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis. Neurology 2009;72:1544-1547

*Meola G, Hanna MG, Fontaine B. Diagnosis and new treatment in muscle channelopathies. J Neurol Neurosurg Psychiatry 2009;80:360-365.

*Butera G, Biondi-Zoccai GG, Carminati M, Caputi L, Usai S, Bussone G, Meola G, Delogu AB, Sheiban I, Sangiorgi G. Systematic review and meta-analysis of currently available clinical evidence on migraine and patent foramen ovale percutaneous closure: Much ado about nothing? Catheter Cardiovasc Interv. 2010;75:494-504.

*Vihola A, Bachinski LL, Sirito M, Olufemi SE, Hajibashi S, Baggerly KA, Raheem O, Haapasalo H, Suominen T, Holmlund-Hampf J, Paetau A, Cardani R, Meola G, Kalimo H, Edström L, Krahe R, Udd B. Differences in aberrant expression and splicing of sarcomeric proteins in the myotonic dystrophies DM1 and DM2. Acta Neuropathol. 2010;119:465-79.

*Sansone V, Panzeri M, Montanari M, Apolone G, Gandossini S, Rose MR, Politano L, Solimene C, Siciliano G, Volpi L, Angelini C, Palmieri A, Toscano A, Musumeci O, Mongini T, Vercelli L, Massa R, Panico MB, Gandi M and Meola G. Italian validation of INQoL, a qualità of life questionnaire for adults with muscle diseases. Eur J Neurol 2010;17:1178-87.

*Micieli G, Cavallini A, Quaglini S, Fontana G, Duè M. The Lombardia Stroke Unit Registry: 1-year experience of a web-based hospital stroke registry (Meola G - Partecipant of SUN Lombardia Collaborators). Neurol Sci 2010;31:555-64.

*Rusconi F, Mancinelli M, Colombo G, Cardani R, Da Riva L, Borganzone I, Meola G, Zipplel R. Protome profile in myotonia dystrophy type 2 myotubes reveals dysfunction in protein processing and mitochondrial pathways. Neurobiol Disord 2010;38:273-80.

*Giagnacovo M, Cardani R, Meola G, Pellicciari C, Malatesta M. Routinely grozen biopsies of human skeletal muscle are suitable for morphological and immunocytochemical analyses at transmissione electron microscopy. EJH 2010;54:e31:137-142.

*Meola G. Myotonic dystrophies as a brain disorder. Neurol Sci 2010;31:863-4

*Gagnon C, Chouinard MC, Laberge L, Veillette S, Bégin P, Breton R, Jean S, Brisson D, Gaudet D, Mathieu J; DMI Expert Panel (Meola G). Health supervision and anticipatory guidance in adult myotonic dystrophy type 1. Neuromuscular Disord 2010;20:847-51.

*Meola G. MRI of tibialis anterior as "surrogate measure" in myotonic dystrophy type 1. Can J Neurol Sci. 2011;38:10-1.

*Perbellini R, Greco S, Sarra-Ferraris G, Cardani R, Capogrossi MC, Meola G, Martelli F. Dysregulation and cellular mislocalization of specific miRNAs in myotonic dystrophy type 1. Neuromuscular Disord 2011;21:81-88.

*Malatesta M, Meola G. Structural and functional alterations of the cell nucleus in skeletal muscle wasting: the evidence in situ. EJH 2010;54:e44;197-199.

Research: Telethon research project: Dystrophin expression in muscle clones from asymptomatic DMD carriers: possible application for carrier detection 1991 National University Research Project (MURST): Clinical and electrophysiological approach in myotonias due alteration of chloride channelopathies National University Research Project (MURST): Clinical, histopathological and electrophysiological study in non-dystrophic myotonias.

1999 National University Research Project (MURST): Multisystemic study and gene defect localization in PROMM. 1999-2001 National University Research Special Project (COFIN-PRIN): Phenotype-genotype correlation in hereditary channelopathies. 

2001-2003 Research Project of University of Milan (FIRST): Effect of mexiletine in myotonic dystrophies and chloride, sodium channelopathies.

2001-2002 Research Project of University of Milan (FIRST): Quantification of myotonia: QMA 2003 Research Project of University of Milan (FIRST): Registry, natural history and QMA in neuromuscular disease.

2001-2005 National University Research Special Project (COFIN-PRIN): DM1 and DM2 from pathogenesis to gene therapy. 2005-2007 AFM Project: Innovative therapeutic approaches to Myotonic Dystrophy Type 1 and 2  2008-2010 Renewal AFM Project: Innovative therapeutic approaches to Myotonic Dystrophy Type 1 and 2” 2011-2013