Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis

Annals of Neurology

Volumn 43, Issue 1, 1998, Pages 106-110

  Wisniewski, K E ^a,b   Zhong, N ^a   Kaczmarski, W ^a   Kaczmarski, A ^a   Kida, E ^a,e   Brown, W T ^a,b   Schwarz, K O ^d   Lazzarini, A M ^d   Rubin, A J ^d   Stenroos, E S ^d   Johnson, W G ^d   Wisniewski, T M ^a,c  

^a NEW YORK STATE INSTITUTE FOR BASIC RESEARCH IN DEVELOPMENTAL DISABILITIES   (United States)

^b SUNY DOWNSTATE MEDICAL CENTER   (United States)

^c NEW YORK UNIVERSITY   (United States)

^d ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

^e MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GLUTAMIC ACID; LYSINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; FEMALE; GENOTYPE; HETEROZYGOSITY; HUMAN; MALE; MOLECULAR GENETICS; NEURONAL CEROID LIPOFUSCINOSIS; POINT MUTATION; PRIORITY JOURNAL;

ADULT; ELECTROENCEPHALOGRAPHY; FEMALE; GENOTYPE; HETEROZYGOTE; HUMANS; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; MOLECULAR BIOLOGY; MUTATION; NEURONAL CEROID-LIPOFUSCINOSES; PEDIGREE; SKIN;

EID: 0031893615     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410430118     Document Type: Article

References (20)

1. Zeman W. The neuronal ceroid-lipofuscinoses. Prog Neuropathol 1976;3:203-223
2. Berkovic SF, Carpenter S, Andermann F, et al. Kufs' disease: a critical reappraisal. Brain 1988;111:27-62
3. Wisniewski KE, Rapin I, Heaney-Kieras J. Clinico-pathological variability in the childhood neuronal ceroid-lipofuscinoses and new observations on glycoprotein abnormalities. Am J Med Genet 1988;(suppl 5):27-46
4. Batten FE. Cerebral degeneration with symmetrical changes in the maculae in two members of a family. Trans Ophthalmol Soc UK 1903;23:386-390
5. The International Batten Disease Consortium. Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium. Cell 1995;82:949-957
6. Mitchison HM, Munroe PB, O'Rawe AM, et al. Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3. Genomics 1997;40:346-350
7. Munroe PB, O'Rawe AM, Mitchison HM, et al. Spectrum and functional consequences of mutations in CLN3. Sixth International Congress on Neuronal Ceroid-Lipofuscinoses (NCL-96), June 8-11, 1996, Gustavelund, Finland; final program and abstracts, p 18 (Abstract)
8. Janes RW, Munroe PB, Mitchison HM, et al. A model for Batten disease protein CLN3: functional implications from homology and mutations. FEBS Lett 1996;399:75-77
9. Goebel HH, Gullotta F, Bajanowski T, et al. Pigment variant of neuronal ceroid-lipofuscinosis. Am J Med Genet 1995;57: 155-159
10. Carpenter S, Karpati G, Wolfe LS, Andermann F. A type of juvenile cerebromacular degeneration characterized by granular osmiophilic deposits. J Neurol Sci 1973;18:67-87
11. Ebhardt G, Cervüs-Navarro J, Bürgel P. Klinische und ultrastrukturella Befunde bei einer juvenilen Form der amaurtoischem Idiotie mit protrahiertem Verlauf. Arch Psychiatr Nervenkr 1973;218:79-91
12. Goebel HH, Pilz H, Gullotta F. The protracted form of juvenile neuronal ceroid-lipofuscinosis. Acta Neuropathol (Berl) 1976;36:393-396
13. Kohlschütter A, Laabs R, Albani M. Juvenile neuronal ceroid lipofuscinosis (JNCL): quantitative description of its clinical variability. Acta Paediatr Scand 1988;77:867-872
14. Zhong N, Wisniewski KE, Kaczmarski AL, et al. Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. Hum Genet (In press)
15. Bardeesy N, Pelletier J. Mutational detection by single-strand conformational polymorphism. Methods Neurosci 1995;26: 163-183
16. Wisniewski KE, Kida E, Patxot OF, Connell F. Variability in the clinical and pathological findings in the neuronal ceroid lipofuscinosis: review of data and observations. Am J Med Genet 1992;42:525-532
17. Goebel HH. Protracted juvenile neuronal ceroid-lipofuscinosis. J Inherit Metab Dis 1993;16:233-236
18. Mitchison HM, O'Rawe AM, Lerner TJ, et al. 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 1995;57: 312-315
19. Åberg L, Järvela I, Autti T, et al. A Finnish JNCL patient homozygous for the major 1.02 kb deletion of the CLN3 gene with granular osmiophilic deposits (GRODs). Sixth International Conference on Neuronal Ceroid-Lipofuscinoses (NCL-96), June 8-11, 1996, Gustavelund, Finland; final program and abstracts, p 111 (Abstract)
20. Munroe PB, Mitchison HM, O'Rawe AM, et al. Spectrum of mutations in the Batten disease gene, CLN3. Am J Hum Genet 1997;61:310-316