Diagnosis of neuronal ceroid lipofuscinosis (Batten disease) by electron microscopy in peripheral blood specimens

Ultrastructural Pathology

Volumn 30, Issue 5, 2006, Pages 373-378

  Anderson, G W ^a   Smith, V V ^a   Brooke, I ^a   Malone, M ^a   Sebire, N J ^a  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

Batten disease; Neuronal ceroid lipofuscinosis; Peripheral blood lymphocytes; Ultrastructure

Indexed keywords

BLOOD EXAMINATION; BLOOD SAMPLING; CELL VACUOLE; CONFERENCE PAPER; CONTROLLED STUDY; DNA FINGERPRINTING; ELECTRON MICROSCOPY; EXUDATIVE RETINITIS; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MEDICAL INFORMATION SYSTEM; NEURONAL CEROID LIPOFUSCINOSIS; PRIORITY JOURNAL; ULTRASTRUCTURE;

CEROID; CHILD, PRESCHOOL; HUMANS; INCLUSION BODIES; INFANT; LEUKOCYTES, MONONUCLEAR; MICROSCOPY, ELECTRON, TRANSMISSION; NEURONAL CEROID-LIPOFUSCINOSES;

EID: 33750892604     PISSN: 01913123     EISSN: 15210758     Source Type: Journal    
DOI: 10.1080/01913120500406566     Document Type: Conference Paper

References (19)

1. Goebel HH, Mole SE, Lake BD, eds. The Neuronal Lipofuscinoses (Batten disease). Amsterdam: IOS Press; 1999.
2. Mole SE. The genetic spectrum of human neuronal ceroid lipofuscinoses. Brain Pathol. 2004;14:70-76.
3. Young EP, Worthington VC, Jackson M, Winchester BG. Pre- and postnatal diagnosis of patients with CLN1 and CLN2 by assay of palmitoyl-protein thioesterase and tripeptidyl-peptidase I activities. Eur J Paediatr Neurol. 2001;5 (Suppl A):193-196.
4. Barohn RJ, Dowd DC, Kagan-Hallet KS. Congenital ceroid lipofuscinosis. Pediatr Neurol. 992;8:54-59.
5. Garborg I, Torvik A, Hals J, Tangsrud SE, Lindemann R. Congenital ceroid lipofuscinosis: a case report. Acta Pathol Microbiol Immunol Scand. 1987;95:119-125.
6. Humphreys S, Lake BD, Scholtz CL. Congenital amaurotic idiocy: A pathological, histochemical, biochemical and ultrastructural study. Neuropathol Appl Neurobiol. 1985;11:475-484.
7. van Diggelen OP, Keulemans JL, Kleijer WJ, Thobois S, Tilikete C, Voznyi YV. Pre- and postnatal enzyme analysis for infantile adult neuronal ceroid lipofuscinosis (CNL1 and CNL2). Eur J Paediatr Neurol. 2001;5 (Suppl A):189-192.
8. Anderson G, Smith VV, Malone M, Sebire NJ. Blood film examination for vacuolated lymphocytes in the diagnosis of metabolic disorders: Retrospective experience of > 2,500 cases from a single centre. J Clin Pathol. 2005;58:1305-1310.
9. Monroe PB, Rapola J, Mitchinson HM, et al. Prenatal diagnosis of Batten's disease. Lancet. 1996;13:1014-1015.
10. Rapola J, Lahdentie J, Isosomppi J, Helminen P, Penttinen M, Jarvela I. Prenatal diagnosis of variant late infantile neuronal ceroid lipofuscinosis (vLINCL Finnish; CLN5). Prenat Diagn. 1999;19:685-688.
11. Rapola J, Salonen R, Ammala P, Santavuori P. Prenatal diagnosis of infantile neuronal ceroid lipofuscinosis. INCL: morphological aspects. J Inher Metab Dis. 1993;16:349-352.
12. Rapola J, Salonen R, Ammala P, Santavuori P. Prenatal diagnosis of the infantile type of neuronal ceroid lipofuscinosis by electron microscopic investigation of human chorionic villi. Prenat Diagn. 1990;10:553-559.
13. Lake BD, Padayachee M, Perham TGM, Lunt PW. Prenatal diagnosis of juvenile Batten disease (CNL3). 41st Annual Meeting of the Paediatric Pathology Society, Bordeaux, France, 1996, Abstract 5.
14. Goebel HH, Mole SE, Lake BD. Introduction. In: Goebel HH, Mole SE, Lake BD, eds. The Neuronal Lipofuscinoses (Batten Disease). Amsterdam: IOS Press; 1999:3.
15. Mole SE, Michaux G, Coldlin S, Wheeler RB, Sharp JD, Cutler DF. CLN6, which is associated with a lysosomal storage disease is an endoplasmic reticulum protein. Exp Cell Res. 2004;298:399-406.
16. Ezaki J, Kominami E. The intracellular location and function of proteins of neuronal ceroid lipofuscinoses. Brain Pathol. 2004;14:77-85.
17. Wisniewski KE, Zhong N, Philippart M. Phenol/genotypic correlations of neuronal ceroid lipofuscinoses. Neurology 2001;57:576-581.
18. Lonka L, Salonen T, Siintola E, Kopra O, Lehesjoki AE, Jalanko A. Localisation of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells. J Neurosci Res. 2004;76:862-871.
19. Schulz A, Dhar S, Rylova S, et al. Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant. Ann Neurol. 2004;56:342-350.