Morphological aspects of the neuronal ceroid lipofuscinoses

Neurological Sciences

Volumn 21, Issue 3 SUPPL., 2000, Pages

  Goebel, H H ^a  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

Classification; Genes; Lipopigments; Neuronal ceroid lipofuscinoses; Neuronal loss; Ultrastructure

Indexed keywords

PIGMENT;

BRAIN CORTEX; CELL LOSS; CELL STRUCTURE; CEREBELLUM CORTEX; CONFERENCE PAPER; DISEASE CLASSIFICATION; ELECTRON MICROSCOPY; FLUORESCENCE MICROSCOPY; GENETIC ANALYSIS; GRAY MATTER; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; MORPHOMETRICS; NEURONAL CEROID LIPOFUSCINOSIS; PIGMENTATION;

EID: 0033770086     PISSN: 15901874     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100720070037     Document Type: Conference Paper

References (50)

1. Stengel C (1982) Account of a singular illness among four siblings in the vicinity of Røraas. In: Armstrong D, Koppang N, Rider AJ (eds) Ceroid-lipofuscinosis (Batten's disease). Elsevier Biomedical, Amsterdam, pp 17-19 (Translated from: Beretning om et maerkeligt Sygdomstilfoelde hos fire Sødskende i Naerheden af Røraas (1826) Eyr et medicinsk Tidskrift 1:347-352)
2. Stengel C (1982) Account of a singular illness among four siblings in the vicinity of Røraas. In: Armstrong D, Koppang N, Rider AJ (eds) Ceroid-lipofuscinosis (Batten's disease). Elsevier Biomedical, Amsterdam, pp 17-19 (Translated from: Beretning om et maerkeligt Sygdomstilfoelde hos fire Sødskende i Naerheden af Røraas (1826) Eyr et medicinsk Tidskrift 1:347-352)
3. Batten FE (1914) Family cerebral degeneration with macular change (so-called juvenile form of family amaurotic idiocy). QJM 7:444-454
4. Bielschowsky M (1913) Über spätinfantile familiäre amaurotische Idiotie mit Kleinhirnsymptomen. Dtsch Zeitschr Nervenheilk 50:7-29
5. Goebel HH (1997) Morphologic diagnosis in neuronal ceroid lipofuscinosis. Neuropediatrics 28:67-69
6. Bielschowsky M (1920) Zur Histopathologie und Pathogenese der amaurotischen Idiotie mit besonderer Berücksichtigung der zerebellaren Veränderungen. J Psychol Neurol 26:123-199
7. Goebel HH, Gerhard L, Kominami E, Haltia M (1996) Neuronal ceroid-lipofuscinosis - late-infantile or Jansky-Bielschowsky type - revisited. Brain Pathol 6:225-228
8. Ikeda K, Goebel HH (1979) Ultrastructural pathology of lymphocytes in neuronal ceroid-lipofuscinosis. Brain Dev 1:285-292
9. Goebel HH, Köhnecke B, Koppang N (1982) Ultrastructural studies on the retina in human and canine neuronal ceroid-lipofuscinoses and other lysosomal disorders. Birth Defects 18:241-253
10. Ikeda K, Goebel HH, Burck H, Kohlschütter A (1982) Ultrastructural pathology of human lymphocytes in lysosomal disorders: a contribution to their morphological diagnosis. Eur J Pediatr 138:179-185
11. Elleder M, Lake BD, Goebel HH, Rapola J, Haltia M, Carpenter S (1999) Definitions of the ultrastructural patterns found in NCL. In: Goebel HH, Mole SE, Lake BD (eds) The neuronal ceroid lipofuscinoses (Batten disease). IOS, Amsterdam, pp 5-15
12. Goebel HH, Vesa J, Reitter B, Goecke TO, Schneider-Rätzke B, Merz E (1995) Prenatal diagnosis of infantile neuronal ceroid-lipofuscinosis: a combined electron microscopic and molecular genetic approach. Brain Dev 17:83-88
13. Rapola J, Salonen R, Ämmälä P, Santavuori P (1990) Prenatal diagnosis of the infantile type of neuronal ceroid lipofuscinosis by electron microscopic investigation of human chorionic villi. Prenat Diagn 10:553-559
14. Rapola J, Salonen R, Ämmälä P, Santavuori P (1993) Prenatal diagnosis of infantile neuronal ceroid-lipofuscinosis, INCL: morphological aspects. J Inherit Metab Dis 16:349-352
15. MacLeod PM, Dolman CL, Nickel RE, Chang E, Nag S, Zonana J, Silvey K (1985) Prenatal diagnosis of neuronal ceroid-lipofuscinoses. Am J Med Genet 22:781-789
16. MacLeod PM, Nag S, Berry C (1988) Ultrastructural studies as a method of prenatal diagnosis of neuronal ceroid lipofuscinosis. Am J Med Genet 5:93-97
17. Chow CW, Borg J, Billson VR, Lake BD (1993) Fetal tissue involvement in the late infantile type of neuronal ceroid lipofuscinosis. Prenat Diagn 13:833-841
18. Munroe PB, Rapola J, Mitchison HM, Mustonen A, Mole SE, Gardiner RM, Järvelä I (1996) Prenatal diagnosis of Batten's disease. Lancet 347:1014-1016
19. Lake BD, Young EP, Winchester BG (1998) Prenatal diagnosis of lysosomal storage diseases. Brain Pathol 8:133-149
20. Braak H, Goebel HH (1979) Pigmentoarchitectonic pathology of the isocortex in juvenile neuronal ceroid lipofuscinosis: Axonal enlargements in layer IIIab and cell loss in layer V. Acta Neuropathol (Berl) 46:79-83
21. Goebel HH, Mole SE, Lake BD (1999) Introduction. In: Goebel HH, Mole SE, Lake BD (eds) The neuronal ceroid lipofuscinoses (Batten disease). IOS, Amsterdam, pp 1-4
22. Birch DG (1999) Retinal degeneration in retinitis pigmentosa and neuronal ceroid-lipofuscinosis: an overview. Mol Genet Metab 66:356-366
23. Goebel HH, Schochet SS, Jaynes M, Gutmann L (1998) Ultrastructure of the retina in adult neuronal ceroid lipofuscinosis. Acta Anat (Basel) 162:127-132
24. Mole SE (1999) Mutations in CLN1, CLN2, CLN3 and CLN5. In: Goebel HH, Mole SE, Lake BD (eds) The neuronal ceroid lipofuscinoses (Batten Disease). IOS, Amsterdam, pp 145-148
25. 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
26. Hofman IL, Taschner PEM (1995) Late onset juvenile neuronal ceroid-lipofuscinosis with granular osmiophilic deposits (GROD). Am J Hum Genet 57:165-167
27. Philippart M, Chugani HT, Bateman JB (1995) New Spielmeyer-Vogt variant with granular inclusions and early brain atrophy. Am J Med Genet 57:160-164
28. Crow YJ, Tolmie JL, Howatson AG, Patrick WJA, Stephenson JBP (1997) Batten disease in the west of Scotland 1974-1995 including five cases of juvenile form with granular osmiophilic deposits. Neuropediatrics 28:140-144
29. O'Rawe A, Mitchison HM, Williams R, Wheeler R, Andermann E, Andermann F, Hart YM, Martin J-J, Philippart M, Stephenson JBP, Gardiner RM, Mole SE (1997) Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits. Neuropediatrics 28:21-22
30. Mitchison HM, Hofmann SL, Becerra CHR, Munroe PB, Lake BD, Crow YJ, Stephenson JBP, Williams RE, Hofman IL, Taschner PEM, Martin JJ, Philippart M, Andermann E, Andermann F, Mole SE, Gardiner RM, O'Rawe AM (1998) Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. Hum Mol Genet 7:291-297
31. Munroe PB, Greene NDE, Leung K-Y, Mole SE, Gardiner RM, Mitchison H (1998) Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland. J Med Genet 35:790 (letter)
32. Wisniewski KE, Connell F, Kaczmarski W, Kaczmarski A, Siakotos A, Becerra CR, Hofmann SL (1998) Palmitoyl-protein thioesterase deficiency in a novel granular variant of LINCL. Pediatr Neurol 18:119-123
33. Garborg I, Torvik A, Hals J, Tangsrud SE, Lindemann R (1987) Congenital neuronal ceroid lipofuscinosis. Acta Pathol Microbiol Immunol Scand [A] 95:119-125
34. Humphreys S, Lake BD, Scholtz CL (1985) Congenital amaurotic idiocy - a pathological, histochemical, biochemical and ultrastructural study. Neuropathol Appl Neurobiol 11:475-484
35. Kohlschütter A, Lake BD (1999) NCL variants without genetic assignment. In: Goebel HH, Mole SE, Lake BD (eds) The neuronal ceroid lipofuscinoses (Batten disease). IOS, Amsterdam, pp 125-126
36. Walkley SU (1998) Cellular pathology of lysosomal storage disorders. Brain Pathol 8:175-193
37. Jolly RD, Walkley SU (1999) Ovine ceroid lipofuscinosis (OCL6): postulated mechanisms of neurodegeneration. Mol Genet Metabol 66:376-380
38. Lane SC, Jolly RD, Schmechel DE, Alroy J, Boustany R-M (1996) Apoptosis is the mechanism of neurodegeneration in Batten disease. J Neurochem 67:677-683
39. Puranam K, Qian W-H, Nikbakht K, Venable M, Obeid L, Hannun Y, Boustany R-M (1997) Upregulation of Bcl-2 and elevation of ceramide in Batten disease. Neuropediatrics 28:37-41
40. Kurata K, Hayashi M, Satoh J, Kojima H, Nagata J, Tamagawa K, Shinohara T, Morimatsy Y, Kominami E (1999) Pathological study on sibling autopsy cases of the late infantile form of neuronal ceroid lipofuscinosis. Brain Dev 21:63-67
41. Grasl-Kraupp B, Ruttkay-Nedecky B, Koudelka H, Bukowska K, Bursch W, Schulte-Hermann R (1995) In situ detection of fragmented DNA (TUNEL assay) fails to discriminate among apoptosis, necrosis, and autolytic cell death: a cautionary note. Hepatology 21:1465-1468
42. Puranam KL, Quo W-X, Qian W-H, Nikbakht K, Boustany R-M (1999) CLN3 defines a novel anti-apoptotic pathway operative in neurodegeneration and mediated by ceramide. Mol Genet Metabol 66:294-308
43. Kieseier BC, Wisniewski KE, Park E, Schuller-Levis G, Mehta PD, Goebel HH (1997) Leukocytes in neuronal ceroid-lipofuscinosis: function and apoptosis. Brain Dev 19:317-322
44. Zeman W, Donahue S, Dyken P, Green J (1970) The neuronal ceroid-lipofuscinosis (Batten-Vogt syndrome). In: Vinken PJ, Bruyn GW (eds) Handbook of Neurology. North-Holland, Amsterdam, pp 588-679
45. Brück W, Goebel HH (1998) Microglia activation in neuronal ceroid-lipofuscinosis. Clin Neuropathol 5:276 (abstract)
46. Goebel HH, Schochet SS, Jaynes M, Brück W, Kohlschütter A, Hentati F (1999) Progress in neuropathology of the neuronal ceroid lipofuscinoses. Mol Genet Metab 66:367-372
47. Haltia M, Tyynelä J, Hirvasniemi A, Herva R, Ranta US, Lehesjoki A-E (1999) CLN8 - Northern epilepsy. In: Goebel HH, Mole SE, Lake BD (eds) The neuronal ceroid lipofuscinoses (Batten disease). IOS, Amsterdam, pp 117-124
48. Braak H, Braak E (1993) Pathoarchitectonic pattern of iso-and allocortical lesions in juvenile and adult neuronal ceroid-lipofuscinosis. J Inherit Metab Dis 16:259-262
49. Braak H, Braak E, Gullotta F, Goebel HH (1979) Pigment-filled appendages of the small spiny neurons: a severe pathological change of the striatum in neuronal ceroid lipofuscinosis. Neuropathol Appl Neurobiol 5:389-394
50. Williams RE, Goebel HH (1999) European registries on NCL. In: Goebel HH, Mole SE, Lake BD (eds) The neuronal ceroid lipofuscinoses (Batten disease). IOS, Amsterdam, pp 168-169