Neuronal ceroid lipofuscinoses: Pathological features of bioptic specimens from 28 patients

Neurological Sciences

Volumn 21, Issue 3 SUPPL., 2000, Pages

  Simonati, A ^a   Rizzuto, N ^a  

^a GB Rossi Hospital   (Italy)

Author keywords

Blood lymphocytes; Brain biopsy; Diagnostic criteria; Electron microscopy; NCLs; Pathological cytosomes; Peripheral biopsies

Indexed keywords

ADULT; BRAIN BIOPSY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONFERENCE PAPER; DISEASE CLASSIFICATION; ELECTRON MICROSCOPY; GENETIC ANALYSIS; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; LYMPHOCYTE; NEURONAL CEROID LIPOFUSCINOSIS; ONSET AGE; STORAGE DISEASE; ULTRASTRUCTURE;

EID: 0033774709     PISSN: 15901874     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100720070042     Document Type: Conference Paper

References (37)

1. Goebel H, Sharp JD (1998) The neuronal ceroid-lipofuscinoses. Recent advances. Brain Pathol 8:151-162
2. Goebel HH, Mole SE, Lake BD (eds) (1999) The neuronal ceroid lipofuscinoses (Batten disease). IOS, Amsterdam
3. Zeman W (1970) Historical development of the nosological concept of amaurotic familial idiocy. In: Vinken PJ, Bruyn GW (eds) Handbook of clinical neurology, vol 10. North-Holland, Amsterdam, pp 212-232
4. Sjogren T (1931) Die juvenile amaurotische Idiotie. Klinische und erbichkeitsmedizinische Untersuchungen. Hereditas 14:197-426
5. Zeman W, Dyken P (1969) Neuronal ceroid-lipofuscinosis (Batten's disease): relationship to amaurotic family idiocy? Pediatrics 44:570-583
6. Zeman W (1976) The neuronal ceroid-lipofuscinoses. Prog Neuropathol 3:203-223
7. Mole SE (1999) Batten's disease: eight genes and still counting? Lancet 354:443-445
8. Cardona F (1999) Dati epidemiologici. In: Workshop internazionale. Le ceroidolipofuscinosi neuronali, Milan, 11-12 February 1999, pp 19-20
9. Simonati A, Rizzuto N (1988) Blood lymphocytes in neuronal ceroid lipofuscinosis. Ital J Neurol Sci 9:249-254
10. Simonati A, Santorum E, Tessa A, Polo A, Simonetti F, Dalla Bernardina B, Santorelli FM, Rizzuto N (2000) A CLN2 nonsense mutation is associated with severe caudate atrophy and dystonia. Neuropediatrics (in press)
11. Carpenter S, Karpati G, Wolfe LS, Andermann F (1973) A type of juvenile cerebromacular degeneration marked by granular osmiophilic deposits. J Neurol Sci 18:67-87
12. Lake BD, Brett ME, Boyd SG (1996) A form of juvenile Batten disease with granular osmiophilic deposits. Neuropediatrics 27:265-269
13. Mitchison HM, Hofmann SL, Becerra CH, Munroe PB, Lake BD, Crow YJ, Stephenson JB, Williams RE, Hofman IL, Taschner PEM, Martin JJ, Philippart M, Andermann E, Andermann F, Mole SE, Gardiner RM, O'Rawe AM (1997) Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. Hum Mol Genet 7:291-297
14. Berkovic SF, Carpenter S, Andermann F, Andermann E, Wolfe LS (1988) Kufs' disease: a critical reappraisal. Brain 111:27-62
15. Gambardella A, Pasquinelli G, Cittadella R, Bono F, Oliveri RL, Valentino P, Zappia M, Quattrone A, Aguglia U (1998) Kufs' disease presenting as late-onset epilepsia partialis continua. Neurology 51:1180-1182
16. Brett EM, Lake BD (1975) Reassessment of rectal approach to neuropathology in childhood. Arch Dis Child 50:753-762
17. Lake BD, Cavanagh NP (1978) Early juvenile Batten's disease - a recognizable subgroup distinct from other forms of Batten's disease. Analysis of 5 patients. J Neurol Sci 36:265-271
18. Munroe PB, Michison HM, O'Rawe AM, Anderson JW, Boustany R-M, Lerner TJ, Taschner PEM, de Vos N, Breuning MH, Gardiner RM, Mole SE (1997) Spectrum of mutations in Batten disease gene. Am J Hum Genet 61:310-316
19. Sleat DE, Donnelly RJ, Lackland H, Liu C-G, Sohar I, Pullarkat RK, Lobel P (1997) Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science 277:1802-1805
20. Sleat DE, Gin RM, Sohar I, Wisniewski KE, Sklower-Brooks S, Pullarkat RK, Palmer DN, Lerner TJ, Boustany R-M, Uldall P, Siakotos AN, Donnelly RJ, Lobel P (1999) Mutation analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. Am J Hum Genet 64:1511-1523
21. Liu C-L, Sleat DE, Donnelly RJ, Lobel P (1998) Structural organization and sequence of CLN2, the defective gene in classical late infantile neuronal ceroid lipofuscinosis. Genomics 50:206-212
22. Vines DJ, Warburton MJ (1999) Classical late infantile ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I. FEBS Lett 443:131-135
23. The International Batten Disease Consortium (1995) Isolation of a novel gene underlying Batten disease, CLN3. Cell 82:949-957
24. Mitchinson HM, Munroe PB, O'Rawe AM, Taschner PEM, Vos N de, Kremmidiotis G, Lensink I, Munk C, D'Arigo K, Anderson JW, Lerner TJ, Moyzis RK, Callen DF, Breuning MH, Doggett NA, Gardiner RM, Mole SE (1997) Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3. Genomics 40:346-350
25. Kremmidiotis G, Lensink IL, Bilton RL, Woollatt E, Chataway TK, Sutherland GR, Callen DF (1999) The Batten disease gene product (CLN3p) is a Golgi integral membrane protein. Hum Mol Genet 8:523-531
26. Kominani EK, Ezaki J, Muno D, Ishido K, Ueno T, Wolfe LS (1992) Specific storage of subunit C of mitochondrial ATP synthase in lysosomes of neuronal ceroid lipofuscinosis (Batten's disease). J Biochem 111:278-282
27. Elleder M, Sokolova J, Hrebicek M (1997) Follow up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and unrelated lysosomal dosorders. Acta Neuropathol 93:379-390
28. Tyynela J, Baumann M, Henseler M, Sandhoff K, Haltia M (1995) Sphingolipid activator proteins in neuronal ceroido-lipofuscinoses: an immunological study. Acta Neuropathol 89:391-398
29. Kieseier BC, Wisniewski KE, Park E, Schuller Levis G, Mehta PD, Goebel HH (1997) Leukocytes in neuronal ceroido-lipofuscinosis: function and apoptosis. Brain Dev 19:317-322
30. Lane SC, Jolly RD, Schmechel DE, Alroy J, Boutsany RM (1996) Apoptosis as the mechanism of neurodegeneration in Batten's disease. J Neurochem 67:677-683
31. Rouchoux MM, Goebel HH (1997) Workshop report: diagnostic (clinical and morphological) criteria for adult neuronal ceroid-lipofuscinosis (Kufs' disease). Neuropathol Appl Neurobiol 23:262-263
32. Dom R, Brucher J, Ceuterick C, Martin J-J (1979) Adult ceroid lipofuscinosis (Kufs' disease) in two brothers. Retinal and visceral storage in one, diagnostic muscle biopsy in the other. Acta Neuropathol 45:67-72
33. Das AK, Becerra CH, Yi W, Lu JY, Siakotos AN, Wisniewski KE, Hofmann SL (1998) Molecular genetics of of palmitoyl protein thioesterase deficiency in US. J Clin Invest 102:361-370
34. Carpenter S, Karpati G, Andermann F, Jacob JC, Andermann E (1977) The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease. Brain 100:137-156
35. Goebel HH, Braak H (1989) Adult neuronal ceroid-lipofuscinosis. Clin Neuropathol 8:109-119
36. Gelot A, Maurage CA, Rodriguez D, Perrier-Pallisson D, Larmande P, Ruchoux MM (1998) In vivo diagnosis of Kufs' disease by extracerebral biopsies. Acta Neuropathol 96:102-108
37. Martin J-J, Ceuterick C (1997) Adult neuronal ceroid-lipofuscinosis - Personal observations. Acta Neurol Belg 97:85-92