Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL(Finnish); CLN5)

Prenatal Diagnosis

Volumn 19, Issue 7, 1999, Pages 685-688

  Rapola, Juhani ^a   Lähdetie, Jaana ^b   Isosomppi, Juha ^c   Helminen, Päivi ^d   Penttinen, Maila ^b   Järvelä, Irma ^c  

^a UNIVERSITY OF HELSINKI   (Finland)

^b TURKU UNIVERSITY HOSPITAL   (Finland)

^c NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^d HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

CLN5; Electron microscopy; Mutation analysis; NCL; Prenatal diagnosis

Indexed keywords

CEROID; DNA; LIPOFUSCIN;

ARTICLE; CASE REPORT; CELL INCLUSION; CHORION VILLUS; DNA DETERMINATION; ELECTRON MICROSCOPY; FEMALE; FETUS; FINLAND; GENE DELETION; GENETIC COUNSELING; HUMAN; LYSOSOME; NEURONAL CEROID LIPOFUSCINOSIS; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

CHILD; CHORIONIC VILLI SAMPLING; DNA MUTATIONAL ANALYSIS; FEMALE; GENE DELETION; GESTATIONAL AGE; HAPLOTYPES; HUMANS; MEMBRANE PROTEINS; MICROSCOPY, ELECTRON; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 0344849475     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199907)19:7<685::AID-PD603>3.0.CO;2-F     Document Type: Article

References (24)

1. Autti T, Raininko R, Launes J, Nuutila A, Santavuori P. 1992. Jansky-Bielschowsky variant disease: CT, MRI and SPECT findings. Pediatr Neurol 8: 121-126.
2. 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.
3. Das AK, Becerra CHR, Yi W, Lu J-Y, Siakotos A, Wisniewski KE, Hoffman S. 1998. Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. J Clin Invest 102: 361-370.
4. Gardiner RM, Sandford A, Deadman M, Poulton J, Reeders S, Jokiaho I, Peltonen L, Julier C. 1990. Batten disease (Spielmeyer-Vogt, juvenile onset neuronal ceroid lipofuscinosis) maps to human chromosome 16. Genomics 8: 387-390.
5. Järvelä I, Rapola J, Peltonen L, Puhakka L, Vesa J, Salonen R, mmälä P, Haring P, Ryynänen M, Mustonen A, Santavuori P. 1991. DNA-based prenatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL, CLN1). Prenat Diagn 11: 323-328.
6. Lake BD, Padayachee M, Perham TGM, Lunt PW. 1995. Prenatal diagnosis of juvenile Batten disease (CLN3). 41st Annual Meeting of the Paediatric Pathology Society, Bordeaux, France abstract CS.
7. MacLeod P, Dolman C, Nickel R, Chang E, Zonana J., Silvey K. 1984. Prenatal diagnosis of neuronal ceroid lipofuscinosis. New Eng J Med 310: 595.
8. Mitchison HM, Hofmann SL, Becerra CH, Munroe PB, Lake BD, Cropw YJ, Stephenson JB, Williams RE, Hofman IL, Taschner PEM, Martin JJ, Philippart M, Andermann F, Mole E, 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.
9. Munroe PB, Rapola J, Mitchison HM, Mustonen A, Mole SE, Gardiner RM, Järvelä I. 1996. Prenatal diagnosis of Batten disease. Lancet 347: 1014-1015.
10. Ranta S, Lehesjoki AE, de Fatima Bonaldo M, Knowles JA, Hirvasniemi A, Ross B, de Jong PJ, Soares MB, de la Chapelle A, Gilliam TC. 1997. High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p. Genome Res 7: 887-896.
11. 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.
12. Rapola J, Salonen R, Ämmälä P, Santavuori P. 1993. Prenatal diagnosis of infantile neuronal ceroid lipofuscinosis, INCL: morphological aspects. J Inher Metab Dis 16: 349-352.
13. Rapola J, Santavuori P, Savilahti E. 1984. Suction biopsy of rectal mucosa in the diagnosis of infantile and juvenile types of neuronal ceroid lipofuscinoses. Hum Pathol 15: 352-360.
14. Santavuori P. 1988. Review: neuronal ceroid lipofuscinoses in childhood. Brain Dev 10: 80-83.
15. Santavuori P. 1993. Early juvenile neuronal ceroid lipofuscinosis or variant Jansky-Bielschowsky disease: diagnostic criteria and nomenclature. J Inher Metab Dis 16: 230-232.
16. Santavuori P, Rapola J, Sainio K, Raitta C. 1982. A variant of Jansky-Bielschowsky disease. Neuropediatrics 13: 135-141.
17. Savukoski M, Kestilä M, Williams R, Järvelä I, Sharp J, Harris J, Santavuori P, Gardiner M, Peltonen L. 1994. Defined chromo-somal assignment for CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinosis. Am J Hum Genet 55: 695-701.
18. Savukoski M, Klockars T, Holmberg V, Santavuori P, Lander ES, Peltonen L. 1998. CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. Nature Genet 19: 286-288
19. Sharp JD, Wheeler RE, Lake BD, Savukoski M, Järvelä I, Peltonen L, Gardiner RM, Williams R. 1997. Loci for classical and a variant late infantile neuronal ceroid lipofuscinoses map to chromosomes 11p15 and to 15q21-23. Hum Mol Genet 6:591-595.
20. Sleat D, Donnelly RJ, Lackland H, Liu C-G, Sonar I, Pullarkat RK, Lobel P. 1997. Association of mutations in a lysosomal protein with classical late infantile neuronal ceroid lipofuscinosis. Science 277: 1802-1805.
21. Tahvanainen E, Ranta S, Hirvasniemi A, Karila E, Leisti J, Sistonen P, Weissenbach J, Lehesjoki AE, de la Chapelle A. 1994. The gene for a recessively inherited childhood progressive epilepsy with mental reatrdation maps to the distal short arm of chromosome 8. Proc Natl Acad Sci U.S.A. 91: 7267-7270.
22. The International Batten Disease Consortium 1995. Isolation of a novel gene underlying Batten disease (CLN3). Cell 82: 949-957.
23. Tyynelä J, Suopanki J, Santavuori P, Baumann M, Haltia M. 1997. Variant late infantile neuronal ceroid lipofuscinosis: pathology and biochemistry. J Neuropathol Exp Neurol 56: 369-375.
24. Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, Hoffman SL, Peltonen L. 1995. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 376: 584-587.