Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Santorelli, Filippo Maria ^a   Garavaglia, Barbara ^b   Cardona, Francesco ^c   Nardocci, Nardo ^b   Bernardina, Bernardo Dalla ^d   Sartori, Stefano ^e   Suppiej, Agnese ^e   Bertini, Enrico ^f   Claps, Dianela ^f   Battini, Roberta ^a   Biancheri, Roberta ^g   Filocamo, Mirella ^g   Pezzini, Francesco ^d   Simonati, Alessandro ^d  

^a DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d UNIVERSITY OF VERONA   (Italy)

^e UNIVERSITY OF PADOVA   (Italy)

^f BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^g G GASLINI INSTITUTE   (Italy)

Author keywords

Childhood NCL; Epidemiology; Italy; NCL Genes

Indexed keywords

ADOLESCENT; ARTICLE; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; EUROPE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HUMAN; ITALY; LIPOFUSCINOSIS; MAJOR CLINICAL STUDY; MALE; MOLECULAR EPIDEMIOLOGY; NEUROLOGY; PRESCHOOL CHILD; PREVALENCE; RETROSPECTIVE STUDY; SCHOOL CHILD; ULTRASTRUCTURE;

CHILD; COHORT STUDIES; FEMALE; HUMANS; ITALY; MALE; MOLECULAR EPIDEMIOLOGY; NEURONAL CEROID-LIPOFUSCINOSES;

EID: 84873037158     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-19     Document Type: Article

References (37)

1. Mole SE, Williams RE, Goebel HH, The Neuronal Ceroid Lipofuscinoses (Batten Disease) Oxford: Oxford University Press 2nd 2011
2. Neuronal ceroidolipofuscinoses: pathological features of bioptic specimens in 28 patients. Simonati A, Rizzuto N, Neurol Sci 2000 21 63 S70 10.1007/s100720070042 11073230
3. Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. Noskova L, Stránecky V, Hartmannová H, Pristoupilova A, Baresova V, Ivanek R, Hulkova H, Jahnova H, van der Zee J, Staropoli JF, Sims KB, Tyynela J, Van Broeckhoven C, Nijssen PCG, Mole SE, Elleder M, Kmoch S, Am J Hum Genet 2011 89 241 252 10.1016/j.ajhg.2011.07.003 21820099
4. NCL Diagnosis and Algorithms. Kohlschütter A, Williams RE, Goebel HH, Mole SE, Boustany R-M, van Diggelen OP, Elleder M, Mink JW, Niezen-de Boer R, Ribeiro MG, Simonati A, The Neuronal Ceroid Lipofuscinoses (Batten Disease) Oxford: Oxford University Press, Mole SE, Williams RE, Goebel HH, 2nd 2011 24 34
5. New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses. Williams RE, Mole SE, Neurology 2012 79 183 191 10.1212/WNL.0b013e31825f0547 22778232
6. NCL Mutation Database: http://www.ucl.ac.uk/ncl/mutation
7. Incidence of neuronal ceroid-lipofuscinoses in West Germany: variation of a method for studying autosomal recessive disorders. Claussen M, Heim P, Knispel J, Goebel HH, Kohlschutter A, Am J Med Genet 1992 42 536 538 10.1002/ajmg.1320420422 1609834
8. Neuronal ceroid-lipofuscinoses in Italy: an epidemiological study. Cardona F, Rosati E, Am J Med Genet 1995 57 142 143 10.1002/ajmg.1320570206 7668318
9. Batten disease in the west of Scotland 1974-1995 including five cases of the juvenile form with granular osmiophilic deposits. Crow YJ, Tolmie JL, Howatson AG, Patrick WJ, Stephenson JB, Neuropediatrics 1997 28 140 144 10.1055/s-2007-973690 9266550
10. Neuronal ceroid lipofuscinosis in the Czech Republic:analysis of 57 cases. Report of the 'Prague NCL group'. Elleder M, Franc J, Kraus J, Nevsimalova S, Sixtova K, Zeman J, Eur J Paediatr Neurol 1997 1 109 114 10.1016/S1090-3798(97)80041-4 10728204
11. Neuronal ceroid lipofuscinoses in Scandinavia. Epidemiology and clinical pictures. Uvebrant P, Hagberg B, Neuropediatrics 1997 28 6 8 10.1055/s-2007-973654 9151309
12. Genetic heterogeneity of neuronal ceroid lipofuscinosis in the Netherlands. Taschner PE, Franken PF, van Berkel L, Breuning MH, Mol Genet Metab 1999 66 339 343 10.1006/mgme.1999.2810 10191126
13. Thirty years of Batten disease research: present status and future goals. Rider JA, Rider DL, Mol Genet Metab 1999 66 231 233 10.1006/mgme.1999.2827 10191106
14. Appendix 1: NCL incidence and prevalence data. Williams RE, The Neuronal Ceroid Lipofuscinoses (Batten Disease) Oxford: Oxford University Press, Mole SE, Williams RE, Goebel HH, 2nd 2011 361 363
15. The clinical and genetic epidemiology of neuronal ceroid lupofuscinosis in Newfoundland. Moore SJ, Buckley DJ, MacMillan A, Marshall HD, Steele L, Ray PN, Nawaz Z, Baskin B, Frecker M, Carr SM, Ives E, Parfrey PS, Clin Genet 2008 74 213 222 10.1111/j.1399-0004.2008.01054.x 18684116
16. The epidemiology of progressive intellectual and neurological deterioration in childhood. Verity C, Winstone AM, Stellitano L, Will R, Nicoll A, Arch Dis Child 2010 95 361 364 10.1136/adc.2009.173419 19948513
17. A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis. Mazzei R, Conforti FL, Magariello A, Bravaccio C, Militerni R, Gabriele AL, Sampaolo S, Patitucci A, Di Iorio G, Muglia M, Quattrone A, J Neurol 2002 249 1398 1400 10.1007/s00415-002-0849-3 12382155
18. A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis reveals aspects of CLN8 neurobiological function. Vantaggiato C, Redaelli F, Falcone S, Perrotta C, Tonelli A, Bondioni S, Morbin M, Riva D, Saletti V, Bonaglia MC, Giorda R, Bresolin N, Clementi E, Bassi MT, Hum Mutat 2009 30 1104 1116 10.1002/humu.21012 19431184
19. A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient. Santorelli FM, Bertini E, Petruzzella V, Di Capua M, Calvieri S, Gasparini P, Zeviani M, Biochem Biophys Res Commun 1998 245 519 522 10.1006/bbrc.1998.8484 9571187
20. A novel nonsense mutation (Q509X) in three Italian Late infantile neuronal ceroid-lipofuscinosis children. Tessa A, Simonati A, Tavoni A, Bertini E, Santorelli FM, Hum Mutat on line 2000 15 577
21. Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean. Cannelli N, Cassandrini D, Bertini E, Striano P, Fusco L, Gaggero R, Specchio N, Biancheri R, Vigevano F, Bruno C, Simonati A, Zara F, Santorelli FM, Neurogenetics 2006 7 111 117 10.1007/s10048-005-0024-y 16570191
22. Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis. Cannelli N, Nardocci N, Cassandrini D, Morbin M, Aiello C, Bugiani M, Criscuolo L, Zara F, Striano P, Granata T, Bertini E, Simonati A, Santorelli FM, Neuropediatrics 2007 38 46 49 10.1055/s-2007-981449 17607606
23. Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6. Cannelli N, Garavaglia B, Simonati A, Aiello C, Barzaghi C, Pezzini F, Cilio R, Biancheri R, Morbin M, Dalla Bernardina B, Tessa A, Pessagno A, Boldrini R, Grazian L, Claps DS, Carrozzo C, Mole SE, Nardocci N, Santorelli FM, Biochem Biophys Res Commun 2009 379 892 897 10.1016/j.bbrc.2008.12.159 19135028
24. Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis. Aiello C, Terracciano A, Simonati A, Discepoli G, Cannelli N, Claps DS, Crow YJ, Bianchi M, Kitzmuller C, Longo D, Tavoni A, Franzoni E, Tessa A, Veneselli E, Boldrini R, Filocamo M, Williams RE, Bertini ES, Biancheri R, Carrozzo R, Mole SE, Santorelli FM, Hum Mutat 2009 30 530 E540 10.1002/humu.20975 19177532
25. Spectrum of mutations in the Batten disease gene, CLN3. Munroe PB, Mitchison HM, O'Rawe AM, Anderson JW, Boustany R-M, Lerner TJ, de Vos N, Breuning MH, Gardiner RM, Mole SE, Am J Hum Genet 1997 61 310 316 10.1086/514846 9311735
26. Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis. Bras J, Verloes A, Schneider SA, Mole SE, Guerreiro RJ, Hum Mol Genet 2012 21 2646 2650 10.1093/hmg/dds089 22388936
27. A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. Staropoli JF, Karaa A, Lim ET, Kirby A, Elbalalesy N, Romansky SG, Leydiker KB, Coppel SH, Barone R, Xin W, MacDonald ME, Abdenut JE, Daly MJ, Sims KB, Cotman SL, Am J Hum Genet 2012 91 202 208 22748208
28. Variant late infantile neuronal ceroidlipofuscinosis because of CLN1 mutations. Simonati A, Tessa A, Dalla Bernardina B, Biancheri R, Veneselli E, Tozzi G, Bonsignore M, Grosso S, Piemonte F, Santorelli FM, Pediatr Neurol 2009 40 271 276 10.1016/j.pediatrneurol.2008.10.018 19302939
29. Occurrence of and mortality from childhood neuronal ceroid lipofuscinoses in Norway. Augestad LB, Flanders WD, J Child Neurol 2006 21 917 922 10.1177/08830738060210110801 17092455
30. Mutational analysis of the defective protease in classic Late-Infantile Neuronal Ceroid Lipofuscinosis, a neurodegenerative lysosomal disorder. Sleat DE, Gin RM, Sohar I, Wisniewski K, Sklower-Brooks S, Pullarkat RK, Palmer DN, Lerner TJ, Boustany R-M, Uldall P, Siakotos AN, Donnelly RJ, Lobel P, Am J Hum Genet 1999 64 1511 1523 10.1086/302427 10330339
31. Update of the spectrum and clinical correlations of over 360 mutations in eight genes that underlie the Neuronal Ceroid Lipofuscinoses. Kuosi M, Lehesjoki A-E, Mole SE, Hum Mutat 2011 33 42 63 21990111
32. The neuronal ceroid lipofuscinoses in British Columbia: A clinical, epidemiological and ultrastructural study. MacLeod PM, Dolman CL, Chang E, Applegarth DA, Bryant B, Birth Defects 1976 12 289 296 1024627
33. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, Hofmann SL, Peltonen L, Nature 1995 376 584 587 10.1038/376584a0 7637805
34. Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. Siintola E, Partanen S, Stromme P, Haapanen A, Haltia M, Maehlen J, Lehesjoki A-E, Tyynela J, Brain 2006 129 1438 1445 10.1093/brain/awl107 16670177
35. Towards understanding the neuronal ceroid lipofuscinoses. Kohlschutter A, Schulz A, Brain Dev 2009 31 499 502 10.1016/j.braindev.2008.12.008 19195801
36. Genetically unassigned or unusual NCLs. Boustany R-M, Ceuterick-de Groote C, Goebel H-H, Martin J-J, Mole SE, Schulz A, The Neuronal Ceroid Lipofuscinoses (Batten Disease) Oxford: Oxford University Press, Mole SE, Williams RE, Goebel HH, 2nd 2011 213 236
37. Molecular genetics of the NCLs-status and perspectives. Siintola E, Lehesjoki AE, Mole SE, Biochim Biophys Acta 2006 1762 857 864 10.1016/j.bbadis.2006.05.006 16828266