Programma

Mercoledì 24 MAGGIO

12,30   Registrazione dei partecipanti

Aula Olimpica 1   MIOLOGIA

14,00 Comunicazioni libere
          (Moderano: E. Bertini, Roma; S. Servidei, Roma)

Vascular endothelial growth factor gene transfer using adeno-associated viral vectors stimulates skeletal muscle regeneration and enhances muscle function in mdx mice
S. Messina, M. Aguennouz, A. Bitto, A. Migliorato, M. Giacca, F. Squadrito, G. Vita
Messina, Trieste

Functional and structural modifications of dystrophic muscles after autologous transplantation of muscle-derived AC133+ stem cells
M. Belicchi, C. Marchesi,. Benchaouir, G. D'Antona, G. Fagiolari, C. Lamperti, A. Prelle, M. Guglieri, M. Moggio, A. Priori, MG. D’Angelo, R. Bottinelli, G. Cossu, N. Bresolin, L. Garcia, Y. Torrente
Milano, Pavia, Evry (France)

Variable alteration of ECM components in different muscular dystrophies
S. Zanotti, C. Cappelletti, P. Bernasconi, C. Angelini, A. Prelle, L. Moranti, M. Mora
Milano, Padova

Refining gene expression deregulations in DMD muscle
M. Pescatori, E. Bertini, C. Minetti, C. Bruno, G. Tasca, M. Mirabella, E. Mercuri, P. Tonali, E. Ricci
Roma, Genova

Unusual dystrophin deletions associated with Becker muscular dystrophy (BMD)
G. Galluzzi, J. Mela, L. Colantoni, R. Verardo, S. Servidei
Roma

Bone Metabolism alterations in children with Duchenne Muscular Dystrophy: response to a first-line treatment
S. Saraifoger, A. Dubini, P. Dassi, L. Morandi, M.L. Bianchi
Milano

Muscular dystrophies due to glycosylation defects in a group of Italian patients
A. Ruggieri, I. Moroni, S. Saredi, C. Di Blasi, . Farina, C. Pantaleoni, G. Uziel, M. Mora, L. Morandi
Milano

Expanding the clinical spectrum of POMT1 phenotype                                      
A. D’Amico, A. Tessa, C. Bruno, S. Petrini, R. Biancheri, M. Pane, M. Pedemonte, E. Ricci, A. Falace, A. Rossi, E. Mercuri, F.M. Santorelli, E. Bertini
Roma, Genova               
Effect on collagen VI extra-cellular assembly of COL6A1 and COL6A2 C-terminal mutations in Ullrich Congenital Muscular Dystrophy 
P. Sabatelli, S. Ravaioli, G.  Pepe, B.  Giusti, L.  Lucarini, L. Merlini, E.  Bertini, S. Petrini, E.  Mattioli, C. Bonneman, S. Squarzoni, and N.M.Maraldi
Bologna, Firenze, Ferrara, Roma, Philadelphia

Reduced nitric oxide production in critical illness myopathy
M. Capasso, A. Pandolfi, M. Pace, P. Di Tomo, M. Ragno A. Uncini, A. Di Muzio
Chieti, Ascoli Piceno

16,30 Lettura magistrale:
          Ruolo delle cellule staminali nella terapia delle distrofie muscolari
          (G. Cossu, Roma).

17,30 Muscle Club
          (Moderano: C. Angelini, Padova; T. Mongini, Torino)

Xp21 contiguous gene syndrome: a case report
R. Falsaperla, C. Miceli, B. Brancalion, F. Gozzo, C. Romano e M. Scoto
Catania

Pyomyositis: a fatal case in a diabetic patient.
C. Piantadosi, F.R. Piro, A. Salvi, A. Salerno, N. Pistilli, M. Amini
Roma

Case report: Septin gene mutation in a sporadic case of Hereditary Neuralgic Amyotrophy (HNA)
C. D’Ascenzo, A. Nascimbeni, C. Borsato, C. Angelini, E. Pegoraro
Padova

Familial Partial Lipodystrophy of the Dunningan type (FPLD) and myopathy due to
lamin A/C gene (LMNA) G465D mutation
R. Di Giacopo, J. Mela, G. Galluzzi, M. Catteruccia, S. Servidei
Roma

Coenzyme Q10 deficiency and isolated myopathy. Report of an Italian case
M. Mancuso, L. Volpi, C. Carlesi, S. Piazza, S. Pistolesi, G. Alì, G. Siciliano
Pisa

Merosin-deficient congenital muscular dystrophy
L. Parisi, S. Grisanti, D. Testa, T. Di filippo, M. Roccella
Palermo

Hypokalemic myopathy secondary to aldosteronoma
R. Di Leo, O. Musumeci, S. Sinicropi, C. Rodolico, A. Sergi, G. Vita, M. Buemi, A. Toscano
Messina

A new mitochondrial  tRNALeu(CUN) transition causes a facio-scapulo-peroneal syndrome
M. Filosto, P. Tonin, M. Scarpelli, M. Mancuso, G. Vattemi, N. Rizzuto, G. Tomelleri
Verona, Brescia, Pisa

Selective hypotrophy of pectoralis muscles reveals an atypical case of FSHD
L. Vercelli, T. Mongini, R. Tupler, N. Olivero, E. Vittonatto, R. Mutani, L. Palmucci
Torino, Pavia

19,00   INAUGURAZIONE DELLA RIUNIONE CONGIUNTA AIM – AINP – AIRIC

19,15 Lettura Magistrale:
          La neuropatologia italiana tra passato e futuro (D. Schiffer, Torino

20,00 Cocktail di benvenuto.

Torna su

Giovedì 25 MAGGIO

Aula Olimpica 1-2

8,00  Discussione casi clinici
         A non-progressive form of Rasmussen’s Encephalitis?  A. Cervellino - Roma

Aula Olimpica 1-2   CORSO DI AGGIORNAMENTO

Infiammazione ed  Autoimmunità nelle Malattie Neurologiche
(Coordinano: C. Angelini, Padova; G.L. Mancardi, Genova)

8,30   Immunità umorale e cellulare nelle malattie demielinizzanti del sistema nervoso centrale e periferico
          (L. Battistini, Roma).

9,15    Multiple sclerosis pathology: evolution of pathogenic concept (H. Lassmann, Vienna).

10,00 Infiammazione nelle malattie da prioni (F. Tagliavini, Milano).

10,45 Coffee break.

11,00 Mechanisms of cell death in neurodegenerative diseases and the role of microglial inflammation
          (M. Graeber, Londra).

11,45 Nuove acquisizioni sulla patogenesi delle neuropatie autoimmuni (N. Rizzuto, Verona).

12,30 Immunità umorale e cellulare nelle polimiositi e dermatomiositi (R. Mantegazza, Milano).

13,15 Presentazione del Trattato di Neuropatologia (G.L. Mancardi, Genova).

13,30 Pausa Pranzo

Aula Olimpica 1-2    CORSO TEORICO-PRATICO

Tissue and Brain Banking  (Coordinano:G.L. Forloni, Milano; L.G. Spagnoli, Roma)

14,30 Bio-banche: aspetti regolatori ed esperienze italiane ed europee (L.G. Spagnoli, Roma)

15,00 Consenso informato alla donazione di organi e tessuti a fini scientifici e ruolo delle Associazioni nella
           promozione della cultura della donazione (GL. Forloni – G. Salvini Porro, Milano).

15,15 Brain banking and brain networks for development of neuroscience research.
          (H. Kretzschmar, Monaco di Baviera).
16,00 Coffee Break

16,15 Tecniche di prelievo e conservazione del tessuto nervoso (G. Giaccone, Milano)

16,45  Bio-banche di tessuto muscolare: un’esperienza italiana (C. Angelini, Padova)

17,00 Central BioBanking: the European Huntington Disease Network experience (P. De Blasio, Milano)

17.15 Fattibilità di strutture di brain-banking in Italia (O. Bugiani, Milano)

17.30 “Concluding remarks” (L. Santi, Genova)

18,00 Assemblea Soci AIM

21,00 Cena sociale

Torna su

Venerdì 26 MAGGIO

Aula Olimpica 1  

8,30 Comunicazioni libere
        (Moderano: A. Prelle, Milano; C.P. Trevisan, Padova)

Epidemiology of FacioScapuloHumeral Muscular Dystrophy: original data and review of the literature           
E. Pastorello, M.L. Mostacciuolo , G.Vazza, M. Armani, C. Angelini, G. Tomelleri, P. Tonin, G. Galluzzi, R.G. Tupler, C.P. Trevisan
Padova, Verona, Roma, Pavia

Rage-NF-ΚB pathway activation in response to oxidative stress in facioscapulohumeral muscular dystrophy
C. Rodolico, V. Macaione, M. Aguennouz, A. Mazzeo, A. Patti, E. Cannistraci, R. M. Di Giorgio, G. De Luca, G. Vita
Messina

A novel GNE mutation causes familial recessive myopathy without inclusion bodies
R. Del Bo, M. Guglieri, M.G. D’Angelo,  S. Ghezzi, F. Magri, L. Napoli, A. Prelle, M. Moggio, M. Mora, N. Bresolin, G.P. Comi
Milano

Mutational analysis of dysferlin gene in Italian patients with Miyoshi myopathy (MM)
J. Mela, G. Galluzzi, R. Di Giacopo, M. Catteruccia, R. Verardo, S. Servidei
Roma

Novel mutantions in lamin A/C gene
V.M. Ventriglia, G. Piluso, F. D’Amico, L. Politano, V. Nigro
Napoli

Limb-girdle muscular dystrophies: clinical features and genetic frequency in a large Italian population
M. Guglieri, F. Magri, R. Cagliani, M.G. D’Angelo, A. Prelle, F. Fortunato, S. Lucchiari, S. Salani, R. Del Bo, S. Ghezzi, C. Zecca, C. Lamperti, L. Morandi, M. Mora, M. Moggio, N. Bresolin, G.P. Comi.
Milano

Dominant and recessive inheritance in CAV3 deficiency
M. Traverso, S. Stringara, S. Assereto, M. Pedemonte, R. Biancheri, S. Scapolan, E. Tonoli, F. Sotgia,  M.P. Lisanti, E. Gazzerro, R. Frulio, M.A. Donati , F. Zara, C. Minetti
Genova, Firenze

MRI Study of Limb Girdle Muscular Dystrophies and Inflammatory Myopathies
C. Borsato, R. Dal Borgo, R. Stramare, M. Fanin, E. Pegoraro, C. Angelini
Padova

10,30        Coffee Break

Aula Olimpica 1   MIOLOGIA

10,45 Comunicazioni libere
         (Moderano: C. Minetti, Genova; G. Vita, Messina)

Randomized, double-blind, placebo-controlled trial of  phenylbutyrate in spinal muscular atrophy
E. Mercuri, E. Bertini, S. Messina, A. D’Amico, A. Solari, C. Angelozzi, R. Battini, A. Berardinelli, P. Boffi, C. Bruno, C. Cini, F. Colitto, C. Minetti, T. Mongini, L. Morandi, G. Neri, S. Orcesi, M. Pane, M. Pelliccioni, A. Pini, F. D. Tiziano,  M.Villanova, G. Vita, C. Brahe
Roma, Messina, Milano, Pisa, Pavia, Torino, Genova, Bologna

Correlation between the Hammersmith functional motor scale and SMN 2 copy number in a multicentric study
E. Bertini, C. Angelozzi, S. Messina, A. D’Amico, R. Battini, A. Berardinelli, P. Boffi, C. Bruno, C. Cini, F. Colitto, M. Minetti, T. Mongini, L. Morandi, G. Neri, S. Orcesi, M. Pane, M. Pelliccioni, A. Pini, F. D. Tiziano, M.Villanova, G. Vita, E. Mercuri, C. Brahe
Roma, Messina, Milano, Pisa, Pavia, Torino, Genova, Bologna

Myotonic Dystrophy type 1 re-tested after 10 years: does somatic instability amplify CTG expansion?
V. Romeo, E. Bonifazi, G. Novelli, E. Pegoraro, C. Angelini
Padova, Roma

Muscleblind-like protein 1 (MBNL1): a new histopathological marker of myotonic dystrophies
G. Meola, R. Cardani, G .Rotondo, V. Sansone, E. Mancinelli
Milano

Progressive External Ophthalmoplegia (PEO) reworked
M. Catteruccia, R Di Giacopo, S. Chiatamone, G. Della Marca, S. Servidei
Roma

Association of myasthenia gravis and mitochondrial myopathy: double trouble or pathogenically correlated diseases?
A. Evoli, G. Minicuci, M. Catteruccia, R. Di Giacopo, S. Servidei
Roma

Clinical and genetic characterization in two families with muscle phosphofructokinase deficiency.
O. Musumeci, C. Bruno, C. Rodolico, D. Cassandrini, M. Aguennouz, L. Serlenga, S. Zoccolella, A. Ciranni, A. Amati, G. Vita,  A. Toscano.
Messina, Genova, Bari

SERCA1 and calsequestrin storage myopathy: a new surplus protein myopathy
G. Vattemi, L. Palmucci, P. Tonin, T. Mongini, M. Marini, L. Grigoli, R. L’Erario, N. Rizzato, G. Tomelleri
Verona, Torino, Vicenza

The Italian Contribution to the EuroBioBank network: a successful and operational model for supporting scientific exchange and cooperation
L Politano, C Angelini, M Moggio, M Mora
Napoli, Padova, Milano

13,00        Pausa pranzo

Aula Olimpica 3-4  

14,00  Presentazione Poster Miologia
          (Moderano: M. Moggio, Milano; A. Toscano, Messina)

P1- Extensive mutation analysis in patients with dystrophinopathy: a report
Rimessi P, Gualandi F, Trabanelli C, Venturoli A, Angelini C, Morandi L, Mora M, Mongini T, Minetti C, Mercuri E, Bestini E, Trimarco A, Nigro V, Calzolai E, Merlini L, Ferlini A.
Ferrara, Padova, Milano, Torino, Genova, Roma, Napoli

P2- A novel cysteine-to-tyrosin mutation at the cysteine-rich domain of dystrophin is associated with DMD
A. Trimarco, A. Torella, G. Piluso, L. Politano, V. Nigro
Napoli

P3- Infantile autism and Duchenne de Boulogne muscular dystrophy
L. Parisi, D. Testa, T. Di Filippo, M. Roccella
Palermo

P4- Neuropsychological assessment in children with Duchenne de Boulogne  muscular dystrophy
L. Parisi, D. Testa, T. Di Filippo, M. Roccella
Palermo

P5- Neuropsychological profile in children with Duchenne muscular dystrophy: general and specific deficits
A. Pini, M. Filippini, A. Berardinelli, K. Gorni, A. Ferlini, F. Gualandi, M. Mora
Bologna, Pavia, Ferrara, Milano 

P6- Analysis of myotubularin-related 1 (MTMR1) pre-mRNA splicing in congenital and adult-onset DM1 and DM2 muscle biopsies.
A. Modoni, M. Santoro, M. Masciullo,  P. Tonali, G. Silvestri
Roma

P7- Oxidative stress in Myotonic Distrophy type 1
S. Piazza, L. Volpi, C. Carlesi, M. Falorni, A. Del Corona, M. Franzini, A. Pompella, A. Paolicchi, G. Siciliano
Pisa

P8- Reproductive fitness in Steinert disease
L. Passamano, A. Palladino, L. Comi,  L. Politano
Napoli

P9- Coronary Artery Disease in Myotonic Dystrophy Type 2 (DM2)
V. Sansone, S. Gandossini, M. Panzeri, L. De Ambroggi, G. Meola
Milano

P10-  Modifications of brain tissue volumes in FacioScapuloHumeral Dystrophy
R. Lanzillo, M. Quarantelli, V. Iodice ,  W. Del Vecchio, C. Fiorillo, A. Prinster, F. Manganelli, C. Mollica, M. Salvatore, L. Santoro
Napoli

P11- Diagnostic contribution of muscle MRI in a LGMD2A case with mRNA alteration.
C. Fiorillo, R. Lanzillo, E. Soscia, S. Aurino, M. Aguennoz,  L. Santoro, V. Nigro
Napoli

P12- Genetic heterogeneity of Italian MEB 
A. D’Amico, F.M. Santorelli, A. Tessa, S. Petrini, M. Pane, A. Berardinelli, E. Mercuri, E. Bertini
Roma, Firenze

P13- Ultrastructural approach to molecularly defined FKRP–related muscular dystrophy
G. Cenacchi, E. Pegoraro, C. Boito, L. Tarantino, L. Badiali, De Giorgi, G.N. Martinelli, C. Angelini
Bologna, Padova

P14- Confocal and immunoelectronmicroscopy analyses in an Ullrich patient with a  secondary ColVI defects
S. Petrini, A. D’Amico, .P Sale, L. Lucarini, P. Sabatelli, B. Giusti, M. Verardo, R. Carrozzo, E. Mattioli, S. Marina, M. Chu, G. Pepe, M.A. Russo, E. Bertini 
Roma   

 P15- Homoplasmic point mutations in mitochondrial tRNA genes in patients with  severe encephalopathy
C. Scuderi, E. Borgione, F. Castello, M. Elia, A. Vitello, S.A. Musumeci
Troina

P16- The 9-bp deletion in region V of mtDNA: a new possible cause of sensorineural hearing loss?
E. Borgione, S.A. Musumeci, G. Rizzo, F. Castello, M. Elia, G. Calabrese, C. Scuderi
Troina

P17- Strategies of oxidative stress reduction in mitochondrial myopathies
C. Carlesi, S. Piazza, L. Volpi, F. Galluzzi, G. Ricci, M. Mancuso, M. Franzini, A. Paolicchi,  G. Siciliano
Pisa

P18- Possible role of endothelin-1 in mitochondrial myopathies
S. Pistolesi, G. Alì, S. Nuti, S. Piazza, L. Volpi , G. Siciliano, G. Fontanini
Pisa

P19- Chanarin Dorfman disease (MTSD) at adult onset, clinical and therapeutic approach. Four cases from two families.
E.M. Pennisi, L. Polidori, L. Santarelli, F. Fiume Garelli
Roma

P20- The Pompe Registry: Centralized Data Collection to Outline the Natural Course of Pompe Disease
L. Merlini, on behalf of the Pompe Registry
Ferrara

P21- Neuropathological study of skeletal muscle, heart,  liver, and brain in a neonatal form of Andersen Disease associated with a new mutation in GBE gene
C. Lamperti, S. Salani, S. Lucchiari, A. Bordoni, E. Fruguglietti, V. Crugnola, A. Cappellini, A. Pelle, N. Bresolin,  G.P. Comi, M. Moggio
Milano

P22- Increased exon exclusion caused by a novel mutation affecting a splicing enhancer (ESE) binding motif results in the Sandhoff  motor neuron phenotype.
M. Santoro, A. Modoni, M. Sabatelli, F. Piemonte, P. Tonali, G. Silvestri
Roma

P23- NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations
T. Gidaro, A. Broccolini, R. Morosetti, C. Gliubizzi, R. Frusciante, G.M. Di Lella, P. A. Tonali, E. Ricci, M. Mirabella
Roma

P24- Neprilysin participates in skeletal muscle regeneration and is accumulated in abnormal muscle fibers of inclusion body myositis
A. Broccolini, T. Gidaro, R. Morosetti, C. Gliubizzi, T. Servidei, M. Pescatori, P. A. Tonali, E. Ricci, M. Mirabella
Roma

P25- Idiopathic inflammatory myopathies: TLR4 is differentially expressed on muscle tissue
P. Bernasconi, C. Cappelletti, F. Baggi, P. Confalonieri, E. Mariani, S. Saredi, M. Mora, L. Morandi, M. Mirabella, G. P. Comi, R. Mantegazza
Milano, Roma

P26- Skin involvement in neuromuscular disorders: pediatric reports
R. Falsaperla, C. Romano, S. Perrini, G. Romeo, C. Miceli, M. Scoto
Catania

P27- A microarray study of muscle transcriptome in patients with neurogenic atrophy.
G. Tasca, M. Pescatori, A. Broccolini, M. Sabatelli, G. Silvestri, P.A. Tonali, E. Ricci
Roma

Aula Olimpica 1   MIOLOGIA

16,00        Networks   (Moderano: L. Merlini, Ferrara; L. Politano, Napoli)

17,30        Chiusura Congresso AIM

Torna su

Venerdì 26 MAGGIO

NEUROPATOLOGIA

Aula Olimpica 1-2

8,00  Discussione casi clinici
Un caso di atassia cerebellare subacuta: ruolo della neuropatologia nell’inquadramento nosografico.
M.T. Giordana, Torino

Aula Olimpica 2 – Malattie degenerative ed Invecchiamento Cerebrale 1
                            (Moderano: O.Bugiani, Milano; E. Scarpini, Milano)

8,30   Comunicazioni libere
Relationship between neurofibrillary pathology and Aβ deposition in Alzheimer disease
C. Cupidi, G. Giaccone, R. Capobianco, B. Ghetti, O. Bugiani and F. Tagliavini
Palermo, Indianapolis, Milano

Transcriptional Modulation of Presenilin Genes by Changes in Cholesterol Metabolism
A. Crestini, M. Napolitano, P. Piscopo, E. Bravo and A. Gonfaloni
Roma

Chemokine serum levels in mild cognitive impairment and Alzheimer’s disease
D. Galimberti, C. Fenoglio, C. Lovati, E. Venturelli, I. Guidi, B. Corrà, D. Scalabrini,
F. Clerici, C. Mariani, N. Bresolin and E. Scarpini
Milano

Conformation-sensitive antibodies against Alzheimer’s Ab42 produced by thioredoxin display of the Ab15 peptide
V. Pietrini, N. Moretto, C. Rivetti, A. Bolchi, M.F. Baroc, L. Polonelli, G. Villetti, B.P. Imbimbo and S. Ottonello
Parma

Alterations of circulating ghrelin and GHS-R mRNA levels in vascular dementia patients suggest an involvement of endogenous GHS in neurodegenerative diseases
E. Bresciani,G. Ricci, I. Bulgarelli, B. Ghiazza, L. Tamiazzo, D. Rapetti, F. Donà, A. Torsello, and V. Locatelli
Monza, Cinisello Balsamo, Casatenovo

The response of the aging mouse brain to a neuroinflammatory challenge reveals marked age-dependent alterations
Y.Z. Xu, X.H. Deng, G. Bertini and M. Bentivoglio
Verona
JNK regulates APP processing
A. Colombo, S. Santambrogio, M. Repici, C. Centeno, C. Ploia, G. Forloni and T. Borsello
Milano

Comparative effects  of Ab(1-42)-Al complex  from rat and human  amyloid on rat endothelial cell cultures
D. Drago, F. Ricchelli, G. Tognon and P. Zatta
Padova 

Glutamatergic alteration in a transgenic mouse model of Alzheimer disease
C. Balducci, L. Vismara, C. Manzoni, L. Colombo, G. Forloni and M. Carli
Milano

In vitro assessment of heparin effect on synthetic prion protein peptides aggregation
M. Morbin, R.S. Boshuizen, G. Mazzoleni, R.H. Meloen, J.P.M. Langedijk and F. Tagliavini
Milano, Lelystad and Utrecht

10,30        Coffee Break

Aula Olimpica 2 - Malattie degenerative ed Invecchiamento Cerebrale 2
                           (Moderano: D. Schiffer, Torino; F. Tagliavini, Milano)

10,45        Comunicazioni libere

A family with Alzheimer’s disease and parkinsonism associated with the novel A85V mutation of presenilin 2 gene
G. Marcon, G. Giaccone, M. Mangieri, A. Confaloni, P. Piscopo, A. Crestini, M.R. Piras, F. Tanda, R. Cherchi, E. Deiana and F. Tagliavini
Milano, Udine, Roma, Sassari

Iron load in brain of patients with multiple system atrophy
M.T. Giordana,  C. D'Agostino, C. Valentini, L. Orsi, D. Novero,  P. Caroppo, E. Herrero-Hernandez
Torino

Lack of association between angiogenin and VEGF gene variation and ALS in Italian patients
R. Del Bo, S. Ghezzi, M. Scarlato, S. Corti, F. Locatelli, D. Santoro, A. Prelle, C. Briani,
M. Nardini, G. Siciliano, M. Mancuso, L. Murri, N. Bresolin and G.P. Comi
Milano,  Padova,  Pisa

Widespread axonal degeneration correlates with rapid clinical course in a mouse model of ALS
M.B. Panico, C. Severini, M. Pieri, I. Carunchio, V. Pisani, C. Terracciano, R. Massa, and C. Zona  Roma

Expression of tumor necrosis factor-a and its receptors in Amyotrophic Lateral Sclerosis
D. Lo Coco, P. Veglianese, M.T. Giordana, G. Marcon, C. Bendotti
Milano

 Transplantation of LeX+/CXCR4+ adult neural stem cells delays disease progression of SOD1
mice, an animal model of Amyotrophic Lateral Sclerosis
S. Corti, F. Locatelli, D. Papadimitriou, R. Del Bo, M. Nardini, S. Salani, M. Nizzardo, G. Sardanu,
S. Strazzer, N. Bresolin and  G.P. Comi
 Milano

Mitochondrion-driven cell death pathway in Alpers-Huttenlocher disease
G. Vattemi, F. Carrera, P. Tonin, M. Marini, M. Filosto, G. Tomelleri, N. Rizzuto, A. Simonati
Verona, Brescia

12,15    Lettura magistrale:
            Caratteristiche neuropatologiche delle TSE animali (M. Caramelli, Torino).

13,00        Pausa pranzo

Aula Olimpica 3-4

PRESENTAZIONE POSTER NEUROPATOLOGIA

14,00  Poster Malattie degenerative ed Invecchiamento cerebrale
        (Moderano: M. Morbin, Milano; G. Siciliano, Pisa)

P28- The attitude about brain donation in a selected group of Alzheimer’s unit volunteers
R. Vaccaro, G. Forloni, O. Bugiani and A. Guaita
Abbiategrasso, Corsico, Milano

P29- Absence of mutations in TREM-2 coding region in early onset dementia
C. Fenoglio, D. Galimberti, E. Venturelli, L. Piccio, D. Scalabrini, P. Panina, C. Buonsanti,
C. Lovati, P. Baron, G. Forloni, C. Mariani, N. Bresolin and E. Scarpini           
Milano

P30- Evaluation of urokinase-type plasminogen activator polymorphism C/T at codon 141 (PLAU_1) as genetic risk factor of Alzheimer’s disease (AD) and its involvement in plasma Ab42 levels
M. Pesaresi, D. Albani, C. Lovati, P. Quadri, C. Mariani and G. Forloni
Milano, Mendrisio

P31- Presenilin-1 mutation E318G in the Italian population
D. Albani, S. Batelli, F. Prato, M. Pesaresi, D. Galimberti, E. Scarpini, A. Bruni, M. Franceschi, I. Roiter, V. Artuso and G. Forloni
Milano, Lamezia Terme, Castellanza, Treviso, Venezia

P32- Genetic analysis of the 5HTTLPR polymorphism in Alzheimer’s Disease and Frontotemporal Dementia
F. Prato, D. Albani, D. Galimberti, C. Fenoglio, E. Scarpini and G. Forloni
Milano

P33- Low concentration of beta-amyloid 1-40 peptide alters protein tertiary structure
D. Uberti, G. Cenini, M. Racchi, S. Covoni and M. Memo
Brescia

P34- Activity of synthetic growth hormone secretagogues in microglial and SH-SY5Y cells exposed to beta amyloid fibrils.
I. Bulgarelli, L. Tamiazzo, A. Torsello, E. Bresciani, D. Rapetti, F. Donà and V.Locatelli
Milano
P35- ST1859: a potential drug for protein misfolding disorders?
P. Piovesan, L. Colombo, A. De Luigi, M. Vertechy, P. Minetti, S. Caccia, M. Salmona, O. Ghirardi and G. Forloni
Pomezia, Milano

P36- Skeletal muscle pathology in Gerstmann-Straussler-Scheinker disease
G. Alì, S. Pistoleri, S. Piazza, C. Rossi, S. Nuti, G.L. Donatini, G. Fontanini and G. Siciliano
Pisa

P37- Alpers-Huttenlocher Disease: A Neuropathological Reappraisal
F. Carrera, G. Vattemi, D. Bazan, M. Filosto, G. Tomelleri, N.  Rizzuto, A. Simonati
Verona, Brescia

P38- Neuropathological traits of the Grey Lethal mouse, the animal model of a peculiar autosomal recessive osteopetrosis with neural involvement
P.L. Poliani, A. Pangrazio, M. Ravanini, F. Rucci, A. Villa, P. Vezzosi, F. Facchetti and A. Frattini
Brescia, Milano

P39- Neuropsychological involvement in Kennedy’s disease
A. Palmieri, G. Sorarù, C. D’Ascenzo, L. Baggio, and C. Angelini
Padova, Venezia, Piove di Sacco

14.00 Poster Neuropatie/Tumori
         (Moderano: B. Giometto, Treviso; S. Previtali, Milano;)

P40- Autosomal recessive Charcot-Marie-Tooth with Pyramidal features and GDAP1 mutation
Biancheri R, Zara F, Striano P, Pedemonte M, Cassandrini D, Stringara S, Scapolan S, Bergamino L, Ghiglione E, Managanelli F, Santoro L, Schenone A, Bellone E, Minetti C.
Genova, Napoli

P41- Axonal Charcot-Marie-Tooth disease (CMT2) caused by mutations in the mitofusin-2 gene
M. Milani, D. Pareyson and F. Taroni
Milano

P42- Neurofibromatous neuropathy: an ultrastructural study
C. Terracciano, V. Pisani, M.B. Panico, G.A. Marfia, M. Melis, F.S. Pastore and R. Massa
Roma

P43- Atrophic myopathy secondary to onion bulb-forming lesions in a young horse: histopathological and immunohistochemical findings
L. Mandrioli, G. Gandini, G. Bettini, M. Morini, F. Moranti and P.S. Marcato
Bologna

P44- Nonsystemic vasculitic neuropathy: a clinical, neurophysiological and morphological study
P. Dacci , R. Fazio, C. Butera, N. Riva, S. Previtali, M.C. Malaguti, U. Del Carro, G.C. Comi and A. Quattrini
Milano

P45- Severe acute multineuropathy in Churg-Strauss syndrome in a patient with a history of  melanoma and asthma
M.E. Fruguglietti, L. Napoli, V. Cardin, V. Lucchini, G. Fagiolari, N. Bresolin, M. Moggio and
A. Prelle
Milano

P46- Morphological modifications of resected sciatic nerve after autologous transplantation of skin-derived stem cells into resorbable guides.
Fruguglietti ME, Marchesi C, Ripolone m, Colleoni F, Belicchi M, Meregalli M, Farini A, Gavina M, Pisati F, Furlanetto M, Grimoldi N, Bresolin N, Moggio M, Pelle A, Torrente Y.
Milano

P47- Periosteal Osteoblastoma of the Spine. Report of a case.
G. P. Casadei, A. Salerno, D. Rossi, A. Barbanera, A. Andreoli
Bologna

P48- Ganglioglioma in a six-year-old child. A case report
R. Patarino, A.V. Filardo, S. Squillaci and F. Tallarigo
Crotone, Catanzaro, Esine

P49- Primary neurocytoma of the spinal cord: report of a case
E. Zunarelli and G.P. Trentini
Modena

14,00    Poster Neuropatologia Sperimentale
            (Moderano: C. Cantile, Pisa; G. Lus, Napoli)

P50- Involvement of mitochondrial Mn-SOD activity and NO• production in anoxic preconditioning-induced neuroprotection of cortical neurons
A. Scorziello, R. Sirabella, M. Santillo, A. Adornetto,  L.M.T. Canzoniero, G.F. Di Renzo
and L. Annunziato
Napoli, Benevento

P51- Role of DJ-1 against oxidative stress in human dopaminergic cell line
S. Batelli, D. Albani and G. Forloni
Milano

P52- HMGB1 is expressed in mouse neural cells and released upon different stresses: implication for neuropathology
S. Fossati, G. Faraco, R. Santini, F. Moroni and A. Chiarugi
Firenze

P53- The paradox of cAMP up-regulation in the caudate-putamen after dopamine deafferentation
V. D’Angelo, M. Morello, Z. Esposito, G. Melchiorri, A. Martorana, M. Giorgi, G. Bernardi  and G. Sancesario
Roma, L’Aquila

P54- Gene expression profiling of human neuroblastoma SH-SY5Y in necrotic death caused by 6-hydroxydopamine
A. Strada, A. Brioschi,  S. Calderoni,  S. Cattaldo and A. Mauro
Piancavallo, Verbania, Torino

P55- Immunohistochemical and molecular study of pathological prion protein in Italian scrapie affected goats
B. Iulini, P.L. Acutis, C. Corona, M. Mazza, F. Martucci, A.Z. Perazzini, P. Gazzuola, C. Ligios, M.G. Cancedda, M. Di Bari, R. Nonno, M. Caramelli and C. Casalone
Torino, Roma, Sassari

P56- Multisystem neuronal abiotrophy in a Siamese kitten
M.T. Mandara,G. Ricci, S. Cappuccini andM. Tempesta
Perugia, Valenzano, Bari

P57- Sporadic neurodegenerative disorders in companion animals
C. Cantile, C. Salvatori and M. Arispici 
Pisa

P58- Neurosteroids modulate epileptogenesis in a model of temporal lobe epilepsy 
D. Longo, E. Balzelli, L. Pradelli, I. Zini, M.A. Rogawski, M. Avoli and G. Biagini
Modena, Bethesda, Montreal

P59- P2X2R purinergic receptor subunit mRNA and protein are expressed by all hypothalamic hypocretin/orexin neurons
F. Florenzano, M.T. Viscomi, V. Mercaldo, P. Longone, G. Bernardi, P. Carrive, C. Bagni and
M. Molinari
Roma

Aula Olimpica 2    NEUROPATOLOGIA SPERIMENTALE
                              (Moderano: M. Bentivoglio, Verona; M. Melone, Napoli)

16,00        Comunicazioni libere
Engineering skeletal muscle tissue in vitro: a cell therapy approach
M.A.B. Melone, G. Lus, O. Petillo, A. Calarco, A. Torpedine, M. D’Apolito, M.C. Tanzi, S. Faré, L. Draghi and G. Peluso
Napoli, Milano

Notch1 modulates the dynamic equilibrium of presynaptic compartment by neurite varicosities remodeling
G. Ferrari-Toninelli, S.A. Bonini, D. Uberti and M. Memo
Brescia

Distribution of cAMP-responsive-element-binding protein (CREB) in striatal interneurons in a rat model of Huntington’s disease
C. Giampà, Z. De March, S. Patassini, V. D'Angelo, A. Martorana,  M. Morello, G. Sancesario, 
G. Bernardi, and F.R. Fusco
Roma

16,45        Lettura magistrale:
                 Le huntingtine: un approccio integrato alla patogenesi della malattia di Huntington (E. Cattaneo, Milano).

17,30        Coffee Break

17,45        Comunicazioni libere
Changes in ischemic microenvironment induced by neural stem cells in mice
C. Capone, S. Frigerio, S. Fumagalli, C. Principato, C. Storini, M. Gelati, E. Parati and M.G. De Simoni
Milano

P2X7 receptor up-regulation on microglial cells after a brain infarct in rat: relevance to neuronal plasticity in deafferented brain areas.
S. Amadio, A. Melani, M. Gianfriddo, M.G. Vannucchi, F. Pedata, C. Volonte` and G. Sancesario
Roma, Firenze

Distribution and function of the ionotropic P2X1 receptor after in vitro ischemia
F. Cavaliere, S. Amadio, K. Reymann and C. Volonté
Roma, Magdeburg

The histone deacetylases (HDAC) inhibitor suberoylanilide hydroxamic acid (SAHA) reduces ischemic brain injury and specifically alters gene expression in the mouse brain
G. Faraco, L. Formentini, T. Pancani, P. Mascagni, F. Moroni and A. Chiarugi
Firenze, Milano

Protective features of a cell permeable JNK inhibitor peptide against excitotoxicity: identification of a new key modulator of a death signalling pathway in cortical neurons
M. Repici, C. Centeno, J.Y. Chatton, B.M. Riederer, C. Bonny, P.G.H. Clarke, G. Franzoso and T. Borsello
Milano, Lausanne, Chicago

19,00  Assemblea Soci AINP -  Riunione Direttivo AIRIC

Sabato 27 MAGGIO

NEUROPATOLOGIA

Aula Olimpica 1

8,00  Discussione casi clinici
Neuropatologia di un caso di epilessia parziale ad esordio precoce
A. Simonati, Verona

Aula Olimpica 1  NEUROPATIE PERIFERICHE E MALATTIE INFIAMMATORIE
                                      (Moderano: S. Ferrari, Verona; A. Schenone, Genova)

8,30  Comunicazioni libere
Early-onset axonal Charcot-Marie-Tooth disease associated with novel GDAP1 mutations
I. Moroni, M. Morbin, C. Ciano, D. Pareyson, M. Milani and F. Taroni
Milano

Pathogenic mechanisms in MPZ mutations
T. Vigo, M. Grandis, A. Cadoni, V. La Padula, G.L. Mancardi, J. Kamholz, M.E. Shy and A. Schenone
Genova, Detroit

Charcot-Marie-Tooth diseases related to myelin protein zero (P0): an ultrastructural immunocytochemical analysis of demyelinating and axonal forms
T. Cavallaro, I. Cabrini, S. Ferrari, G.M. Fabrizi and N. Rizzuto.
Verona

Late-onset axonal Charcot-Marie-Tooth disease: a novel MPZ mutation
M. Morbin, M. Laurà, M. Milani, M. Moggio, M. Ripolone, S. Jann, V. Scaioli, C. Ciano, F. Taroni and D. Pareyson
Milano

Treatment with ciliary neurotrophic factor (CNTF) prevents axonal damage in an in vitro model of Charcot-Marie-Tooth type 1A (CMT1A) disease: preliminary results
A. Schenone, T. Vigo, M. Abbruzzese, G.L. Mancardi, G.F. Gherardi and L. Nobbio
Genova

Role of the extracellular matrix in human axonal neuropathies
S.C. Previtali, N. Riva, M.C. Malaguti, P. Dacci, D. Triolo, G. Dina, E. Porriello, M. Scarlato, R. Fazio, G. Comi and A. Quattrini
Milano

Linking Between Rage Endocytic Trafficking And Biological Responses In Primary Schwann Cells
L. Perrone, S.I. Lentz, C. Backus, K.A. Sullivan and E.L. Feldman
Ann Arbor

Lymphoid microenvironments in the multiple sclerosis brain
B. Serafini, R. Magliozzi, A. Vora, B. Rosicarelli, R. Reynolds and F. Aloisi
Roma, London

Mesenchymal stem cells treat EAE through a dual effect on inflammation and tissue damage 
E. Gerdoni, B. Gallo, S. Casazza, E. Pedemonte, S. Musio, G.L. Mancardi, R. Pedotti and              A. Uccelli
Genova, Milano

Aggressive immunotherapy of multiple sclerosis requires surveillance of JC poliomavirus reactivation
E. Capello, J.L. McDermott, D. Ferrari, C. Giacomazzi, F. Della Cava, C. Panarese, G.L. Mancardi  and O.E. Varnier
Genova

Visual  problems in paraneoplastic neurological disorders: data from the PNS EURONETWORK database
R. Vitaliani, B. Giometto and the PNS-Euronetwork group.
Treviso

10,45        Coffee break

Aula Olimpica 1   CORSO DI AGGIORNAMENTO

Neuropatologia  Pediatrica
(Coordinano: P. Curatolo, Roma; A. Simonati, Verona)

11,00 Lettura Magistrale:
         New classification of malformations of CNS (H. Sarnat, Calgary)

11,45 Hemimegalencephaly (L. Flores Sarnat, Calgary)

12,10 Sclerosi tuberosa (P. Curatolo, Roma)

12,35 Sviluppo normale e patologico del cervelletto (A. Simonati, Verona)

13,00 Determinanti genetiche nelle malformazioni della fossa cranica posteriore (E.M. Valente,
          Roma)

13,30 Pausa pranzo

Sabato 27 MAGGIO

NEUROPATOLOGIA ONCOLOGICA

Aula Olimpica 2   CORSO DI AGGIORNAMENTO

Neuropatologia  Oncologica
(Coordinano: F. Giangaspero, Roma; M.T. Giordana, Torino)

8,30    Nuove applicazioni di RMN e di spettroscopia nello studio dei gliomi diffusi (S.
           Bastianello,  Pavia)

9,00    Tecniche PET e SPECT nella diagnostica dei tumori cerebrali (O. Schillaci, Roma)

9,30    Protocolli terapeutici dei gliomi diffusi (M. Salvati, Roma)

10,00 Lettura Magistrale:
          Molecular classification of gliomas (G. Reifenberger, Dusseldorf)

10,45 Coffee break

Aula Olimpica 2

11,00  Comunicazioni libere
           (Moderano: G. Cenacchi, Bologna; E. Zunarelli, Modena)

Oncocytic meningioma. Study of 6 cases
E. Zunarelli, R.A. Fano and G.P. Trentini
Modena

Immunoexpression of  caveolin-1 in human meningiomas
V. Barresi, S. Cerasoli, E. Vitarelli, G. Paioli, G. Guiducci, G. Tuccari and G. Barresi
Messina, Cesena

Leptomeningeal metastasis from cerebral glioblastoma: report on two cases
M. Vianello, M. Serena, E. Orvieto and B. Giometto
Treviso

Inferences from nestin distribution in gliomas
I. Tamagno, M. Mellai, G. Panattaro and D. Schiffer
Vercelli, Torino

Neurospheres with stem cell-like features from human and murine glioblastoma cells produce a highly aggressive brain tumor model
P.L. Poliani, S. Pellegatta, D. Corno, M. Cusimano, B. Suarez-Merino, P. Tunici, L. Valletta,        V. Caldera, M. Ravanini, M.G. Bruzzone, F. Facchetti, G. Broggi and G. Finocchiaro.
Brescia, Milano

Effects of metabotropic glutamate receptors group-II on glioma cell growth and chemosensibility
A. Arcella, G. Carpinelli, G. Battaglia, V. Bruno,  M.A. Oliva, G.P. Cantore, F. Nicoletti and F. Giangaspero 
Pozzilli, Roma

CEACAM1/VEGF mediated angiogenesis during the maturation phase of neuroblastic tumors
P.L. Poliani, M. Ravanini, S. Mitola, G. Ferrari-Toninelli, S.A. Bonini, C. D’Ippolito,  L.D. Notarangelo, M. Presta, M. Memo and F. Facchetti
Brescia

Immunohistological study of P-glycoprotein expression in brain tumors
S. Fattori, F. Becherini, G. Parenti, V. Nardini, K. Iseo, M. Cianfruglia  and M. Castagna
Pisa, Roma

Comparative morphometric analysis of nuclear size in medulloblastoma of children and adults
C. D’Agostino and M.T. Giordana
Torino

The role of p53 in the medulloblastoma cell line radiosensitivity
R. Salaroli, T. Di Tomaso, C. Ceccarelli, S. Cammelli, M.A. Santucci, E. Barbieri, G.N. Martinelli, F. Giangaspero and G. Cenacchi
Bologna, Roma

13,30        Pausa pranzo 

CHIUSURA CONGRESSO

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