Batten disease in the West of Scotland 1974-1995 including five cases of the juvenile form with granular osmiophilic deposits

Neuropediatrics

Volumn 28, Issue 3, 1997, Pages 140-144

  Crow, Y J ^a   Tolmie, J L ^a   Howatson, A G ^a   Patrick, W J A ^a   Stephenson, J B P ^a,b  

^a NHS GREATER GLASGOW AND CLYDE   (United Kingdom)

^b ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

Author keywords

Incidence; Juvenile NCL with GROD; Neuronal ceroid lipofuscinoses

Indexed keywords

ARTICLE; BIRTH RATE; CELL INCLUSION; CELL VACUOLE; CHILD; CLINICAL ARTICLE; CLINICAL EXAMINATION; ELECTRON MICROSCOPY; ELECTROPHYSIOLOGY; FEMALE; GENETIC VARIABILITY; HUMAN; INCIDENCE; INFANT; LYMPHOCYTE; MALE; NEURONAL CEROID LIPOFUSCINOSIS; PATHOLOGY; PRIORITY JOURNAL; RADIODIAGNOSIS; UNITED KINGDOM;

EID: 0030810816     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-973690     Document Type: Article

References (22)

1. Cardona, F., E. Rosati: Neuronal ceroid-lipofuscinoses in Italy: An epidemiological study. Am. J. Med. Genet. 57 (1995) 142-143
2. Carpenter, S., G. Karpati, L. S. Wolfe, F. Andermann: A type of juvenile cerebromacular degeneration characterised by granular osmiophilic deposits. J. Neurol. Sci. 18 (1973) 67-87
3. Claussen, M., P. Heim, J. Knispel, H. H. Goebel, A. Kohlschütter: Incidence of neuronal ceroid-lipofuscinoses in West Germany: Variation of a method for studying autosomal recessive disorders. Am. J. Med. Genet. 42 (1992) 536-538
4. Dyken, P., K. Wisniewski: Classification of the neuronal ceroid-lipofuscinoses: Expansion of the atypical forms. Am. J. Med. Genet. 57 (1995) 150-154
5. Heim, P., A. Kohlschütter: Avoid diagnostic delay of late infantile and juvenile neuronal ceroid-lipofuscinosis (LINCL, JNCL): A word to paediatricians, neurologists and ophthalmologists. Am. J. Med. Genet. 57 (1995) 238
6. Hofman, I. L.: The Batten-Spielmeyer-Vogt Disease. Bartimeushage, Doorn, The Netherlands (1990), ISBN 90-71534-19-7
7. Hofman, I. L., P. E. M. Taschner: Late onset juvenile neuronal ceroid-lipofuscinosis with granular osmiophilic deposits (GROD). Am. J. Med. Genet. 57 (1995) 165-167
8. International Batten Disease Consortium: Isolation of a novel gene underlying Batten disease, CLN3. Cell 82 (1995) 949-957
9. Kohlschütter, A., R. M. Gardiner, H. H. Goebel: Human forms of neuronal ceroid-lipofuscinosis (Batten disease): Consensus on diagnostic criteria, Hamburg 1992. J. Inherit. Metab. Dis. 16 (1993) 241-244
10. Lake, B. D., E. M. Brett, S. G. Boyd: A form of juvenile Batten disease with granular osmiophilic deposits. Neuropaediatrics 27 (1996) 265-269
11. Lake, B. D.: Lysosomal and peroxisomal disorders. In: Graham, D. I., P. L. Lantos (Eds.): Greenfield's Neuropathology. Sixth edition (1997) Arnold 668-676
12. Manca, V., J. Kanitakis, G. Zambruno, J. Thivolet, P. M. Gonnaud: Ultrastructural study of the skin in a case of juvenile ceroid-lipofuscinosis. Am. J. Dermatopathol. 12 (1990) 412-416
13. Mitcheson, H. M., A. M. O'Rawe, T. J. Lerner, P. E. M. Taschner, K. Schlumpf, K. D'Arigo, N. De Vos, E. Gormally, H. A. Phillips, A. D. Thompson, J. L. Haines, Y. M. Hart, E. Andermann, D. F. Callen, M. H. Breuning, R. M. Gardiner, S. E. Mole: Refined localization of the Batten disease gene (CLN3) by haplotype and linkage disequilibrium mapping to D16S288 - D16S383 and exclusion from this region of a variant form of Batten disease with granular osmiophilic deposits. Am. J. Med. Genet. 57 (1995) 312-315
14. O'Rawe, A., H. M. Mitchison, R. Williams, R. Wheeler, A. Andermann, F. Andermann, Y. M. Hart, J.-J. Martin, M. Philippart, J. B. P. Stephenson, R. M. Gardiner, S. E. Mole: Genetic linkage analysis of a variant of juvenile onset neuronal ceroid lipofuscinosis with granular osmiophilic deposits. Neuropediatrics 28 (1997) 21-22
15. Philippart, M., H. T. Chugani, J. B. Bateman: New Spielmeyer-Vogt variant with granular inclusions and early brain atrophy. Am. J. Med. Genet. 57 (1995) 160-164
16. Santavuori, P.: Neuronal ceroid-lipofuscinoses in childhood. Brain Dev. 10 (1988) 80-83
17. Savukoski, M., M. Kestila, R. Williams, I. Jarvela, J. Sharp, J. Harris, P. Santavuori, M. Gardiner, L. Peltonen: Defined chromosomal assignment of CLN5 demonstrates that at least 4 genetic loci are involved in the pathogenesis of human ceroid-lipofuscinoses. Am. J. Hum. Genet. 55 (1994) 695-701
18. Taratuto, A. L., M. Saccoliti, G. Sevlever, V. Ruggieri, H. Arroyo, M. Herrero, M. Massaro, N. Fejerman: Childhood neuronal ceroid-lipofuscinoses in Argentina. Am. J. Med. Genet. 57 (1995) 144-149
19. Vesa, J., E. Hellsten, L. A. Verkruyse, L. A. Camp, J. Rapola, P. Santavuori, S. L. Hofman, L. Peltonen: Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid-lipofuscinosis. Nature 376 (1995) 584-587
20. Williams, R., J. Vesa, I. Järvelä, T. McKay, H. Mitcheson, E. Hellsten, A. Thompson, D. Callen, G. Sutherland, D. Luna-Battadano, R. Stallings, L. Peltonen, M. Gardiner: Genetic heterogeneity in neuronal ceroid-lipofuscinosis (NCL): Evidence that the late-infantile sub-type (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile or infantile subtypes. Am. J. Hum. Genet. 53 (1993) 931-935
21. Wisniewski, K. E., E. Kida, O. F. Paxtot, F. Connell: Variability in the clinical and pathological findings in the neuronal ceroid-lipofuscinoses: Review of data and observations. Am. J. Med. Genet. 42 (1992) 525-532
22. Zeman, W., P. Dyken: Neuronal ceroid-lipofuscinosis (Batten's disease): Relationship to amaurotic familial idiocy? Paediatrics 44 (1969) 570-583