RICERCA ITALIANA     

Programmi di ricerca simili:

• 1 - Geni dell'angiogenesi indotti da ipossia: fattori di suscettibilità nella Sclerosi Laterale Amiotrofica ?
• 2 - Meccanismi di controllo dell’eritropoiesi e policitemie congenite e familiari: ruolo delle vie di risposta alla pressione di ossigeno
• 3 - Aspetti biochimici e genetici del disturbo autistico.
• 4 - Identificazione e caratterizzazione di mutazioni di geni coinvolti nell'ipertermia maligna e nel central core disease.
• 5 - Implicazioni diagnostico-terapeutiche delle nuove conoscenze cliniche e molecolari del carcinoma midollare della tiroide.
• 6 - Eritropoiesi normale e patologica: caratterizzazione molecolare mediante tecnologie avanzate a resa elevata.
• 7 - Studio dei meccanismi molecolari alla base dell’anomala proliferazione e funzione paratiroidea, e identificazione ed uso clinico di marcatori molecolari di carcinoma paratiroideo sporadico e familiare. Nuove acquisizione sulla prevalenza delle manifestazioni scheletriche, neuropsichiche e metaboliche dell’iperparatiroidismo primario, loro relazione con i polimorfismi del recettore del calcio ed effetti della paratiroidectomia.
• 8 - PCSK9 e colesterolo LDL: Studi genetici per la valutazione di un nuovo target farmacologico nelle dislipidemie.
• 9 - Genetica, biologia e clinica dei paragangliomi: le mutazioni della succinodeidrogenasi mitocondriale come modello di studio della trasmissione, crescita, variabilità e trattamento dei tumori di derivazione dalla cresta neurale
• 10 - Nuove acquisizioni sul carico mutazionale e sulle possibilità di monitoraggio citogenetico e molecolare delle displasie/neoplasie mieloidi

Classificazione scientifico-disciplinare

• Area scientifico disciplinare: Scienze mediche
  • NEUROLOGIA

Classificazione brevettuale

• CHEMISTRY; METALLURGY
  • BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS (immunoassay G01N33/53); COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
• HUMAN NECESSITIES
  • AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • ANIMAL HUSBANDRY; CARE OF BIRDS, FISHES, INSECTS; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS

Classificazione geografica

• Regione: Campania

Bibliografia

1) Bouslam, N.; Benomar, A.; Azzedine, et al.. Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). Ann. Neurol. 57: 567-571, 2005.
2) Blumen SC, Bevan S, Abu-Mouch S, et al. A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32. Ann Neurol 2003;54:796-803.
3) Casali C, Valente EM, Bertini E, et al. Clinical and genetic studies in Hereditary spastic paraparesis with thin corpus callosum. Neurology 2004;62:262-268.
4) Casari G, De Fusco M, Ciarmatori S, et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 1998;93:973-983
5) Crosby AH, Proukakis C. Is the transportation highway the right road for hereditary spastic paraplegia? Am J Hum Genet. 2002 ;71:1009-1016
6) De Michele G, De Fusco M, Cavalcanti F, et al. A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3. Am J Hum Genet 1998;63:135-139
7) De Stefano N, Matthews PM, Arnold DL (1995) Reversible decreases in N-Acetylaspartate after acute brain injury. Magn. Reson. Med. 34, 721-727
8) Filla A, De Michele G, Marconi R, et al. Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy. J Neurol 1992;239:351-3
9) Fink JK. Hereditary spastic paraplegia. Neurol Clin 2002;20: 711-726
10) Fu L, Wolfson C, Worsley KJ, De Stefano N, Collins DL, Narayanan S, Arnold DL. Statistics for investigation of multimodal MR imaging data and an application to multiple sclerosis patients. NMR Biomed. 1996;9:339-46.
11) Hentati A, Pericak-Vance MA, Hung WY, et al. Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. Hum Mol Genet 1994;3:1263-7
12) Hodgkinson CA, Bohlega S, Abu-Amero SN, et al. A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14. Neurology 2002;59:1905-1909
13) Hughes CA, Byrne PC, Webb S, et al. SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q. Neurology 2001;56:1230-1233
14) Klebe S, Azzedine H, Durr A, et al. Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3. Brain. 2006.
15) Lossos A, Stevanin G, Meiner V, et al. 2006. Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity. Arch Neurol in press
16) Martinez Murillo F, Kobayashi H, Pegoraro E, et al. Genetic localization of a new locus for recesive familial spastic paraparesis to 15q13-15. Neurology 1999;53:50-56
17) Meijer IA, Cossette P, Roussel J, et al. A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1. Ann Neurol. 2004;56:579-82
18) Orlacchio A, Kawarai T, Totaro A, et al.. Hereditary spastic paraplegia: clinical genetic study of 15 families. Arch Neurol 2004;61: 849-855
19) Patel H, Cross H, Proukakis C, et al. SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia Nat Genet 2002;31:347-348
20) Reddy H. Narayanan S, Woolrich M et al. (2002)Functional brain reorganization for hand movement in patients with multiple sclerosis: defining distinct effects of injury and disability. Brain 125:2646-2657
21) Reid E. Many pathways lead to hereditary spastic paraplegia. Lancet Neurol 2003;2:210
Seri M, Cusano R, Forabosco P, et al. Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy. Am J Hum Genet 1999;64:586-593
22) Shibasaki Y, Tanaka H, Iwabuki K, et al. Linkage of autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15q13-15. Ann Neurol 2000;48:108-112.
23) Simpson MA, Cross H, Proukakis C, et al. Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am J Hum Genet 2003;73:1147-56.
24) Smith SM, Zhang Y, Jenkinson M, Chen J, Matthews PM, Federico A, De Stefano N. (2002). Accurate, robust and automated longitudinal and cross-sectional brain change analysis. Neuroimage 17 , 479-489
25) Stevanin G, Montagna G, Azzadine H, et al. 2006. Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity. Neurogenetics in press
26) Tang BS, Chen X, Zhao GH, et al. 2004. Clinical features of hereditary spastic paraplegia with thin corpus callosum: report of 5 Chinese cases. Chin Med J (Engl). 117:1002-1005
27) Teive HA, Iwamoto FM, Della Coletta MV, et al. 2001. Hereditary spastic paraplegia associated with thin corpus callosum. Arq Neuropsiquiatr 59:790–792
28) Vazza G, Zortea M, Boaretto F, et al. A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28. Am J Hum Genet 2000;67:504-509
29) Wilkinson PA, Simpson MA, Bastaki L, et al. A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14. J Med Genet. 2005;42:80-2
30) Winner B, Uyanik G, Gross C, et al. Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11). Arch Neurol. 2004;61:117-121
31) Zortea M, Vettori A, Trevisan CP, et al. Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1. J Med Genet 2002;39:387-390

Parole Chiave

PARAPARESI SPASTICA FAMILIARE, SPG11, DATABASE E DNA BANK, LINKAGE, ANALISI MUTAZIONALE, NEUROIMAGING, STUDIO FUNZIONALE SPATACSINA, CORRELAZIONE GENOTIPO-FENOTIPO