Lafora progressive myoclonus epilepsy: Narrowing the chromosome 6q24 locus by recombinations and homozygosities [4]

American Journal of Human Genetics

Volumn 61, Issue 5, 1997, Pages 1205-1209

  Sainz, J ^a   Minassian, B A ^a   Serratosa, J M ^a   Gee, M N ^a   Sakamoto, L M ^a   Iranmanesh, R ^a   Bohlega, S ^a   Baumann, R J ^a   Ryan, S ^a   Sparkes, R S ^a   Delgado Escueta, A V ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 6Q; CLINICAL ARTICLE; CONTROLLED STUDY; GENE LOCUS; GENE MAPPING; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC RECOMBINATION; HOMOZYGOSITY; HUMAN; LETTER; MYOCLONUS EPILEPSY; PRIORITY JOURNAL;

EID: 0030730226     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301596     Document Type: Letter

References (27)

1. I Chumakov P Rigault I Le Gall C Bellane-Chantelot A Billaut S Guillou P Soularue A YAC contig map of the human genome Nature 377 1995 175 297
2. C Dib S Fauré D Fizames N Samson A Drouot P Vignal S Millasseau A comprehensive genetic map of the human genome based on 5,264 microsatellites Nature 380 1996 152 154
3. H Eiberg J Mohr LS Nielsen Linkage of plasma alpha-L-fucosidase (FUCA2) and the plasminogen (PLG) system Clin Genet 26 1984 23 29
4. A Federico I D'Amore G Palladini L Medolago-Albani GC Guazzi D Tomaccini Lafora's disease: clinical, histological ultrastructural and biochemical study Acta Neurol 2 1980 466 475
5. P Gambetti S Di Mauro L Hirt RP Blume Myoclonic epilepsy with Lafora bodies Arch Neurol 25 1971 483 493
6. C Greer S Petersen N Kiviat M Manos PCR amplification from paraffin-embedded tissues Anat Pathol 95 1991 117 124
7. D Jackson F Lewis G Taylor A Boylston P Quirke Tissue extraction of DNA and RNA analyzed by the polymerase chain J Clin Pathol 43 1990 499 504
8. L Kruglyak MJ Daly MP Reeve-Daly ES Lander Parametric and nonparametric linkage analysis: a unified multipoint approach Am J Hum Genet 58 1996 1347 1363
9. GR Lafora The presence of amyloid bodies in the protoplasm of the ganglion cells: a contribution to the study of the amyloid substance in the nervous system Bull Gov Hosp Insane 3 1911 a 83 92
10. GR Lafora Über das Vorkommen amyloider Körperchen im Innern der Ganglienzellen: zugleich Ein zum Studium der amyloiden Substanz im Nervensystem Virchows Arch A Pathol Anat Histopathol 205 1911 b 295 303
11. GR Lafora Myoclonus: physiological and pathological considerations In: Proceedings of the 2d International Congress of Neuropathology. Part 1 1955 Excerpta Medica Amsterdam 9 21
12. ES Lander D Botstein Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children Science 236 1987 1567 1570
13. DC MacLaren CM O'Connor YR Xia M Mehrabian I Klisak RS Sparkes S Clarke The L-isoaspartyl/D-aspartyl protein methyltransferase gene (PCMT1) maps to human chromosome 6q22.3-6q24 and the syntenic region of mouse chromosome 10 Genomics 14 1992 852 856
14. JC Murray KH Buetow M Donovan S Hornung AG Motulsky C Disteche K Dyer Linkage disequilibrium of plasminogen polymorphisms and assignment of the gene to human chromosome 6q26-6q27 Am J Hum Genet 40 1987 338 350
15. IM Ota JM Gilbert S Clarke Two major isozymes of the protein D-aspartyl/L-isoaspartyl methyltransferase from human erythrocytes Biochem Biophys Res Commun 151 1988 1136 1143
16. J Ott Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies Am J Hum Genet 26 1974 588 597
17. M Sakai J Austin F Witmer L Trueb Studies in myoclonus epilepsy (Lafora body form). II. Polyglucosans in the systemic deposits of myoclonus epilepsy and in corpora amylacea Neurology 20 1970 160 176
18. J Sambrook EF Fritsch T Maniatis Molecular cloning: a laboratory manual 2d ed. 1989 Cold Spring Harbor Laboratory Press Cold Spring Harbor, NY
19. GA Schwarz Lafora's disease: a disorder of carbohydrate metabolism ES Goldensohn SH Appel Scientific approaches to clinical neurology 1977 Lea & Febiger Philadelphia 148 159
20. GA Schwarz M Yanoff Lafora bodies, corpora amilacea, and Lewy bodies: a morphological and histochemical study Arch Neurobiol (Madrid) 28 1965 a 800 818
21. GA Schwarz M Yanoff Lafora's disease: distinct clinico-pathologic form of Unverricht's syndrome Arch Neurol 12 1965 172 188
22. JM Serratosa AV Delgado-Escueta I Posada S Shih I Drury J Berciano JA Zabala The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q Hum Mol Genet 4 1995 1657 1663
23. Stanford Human Genome Center homepage http://shgc-www.stanford.edu 1997
24. W Tsai S Clarke Amino acid polymorphisms of the human l-isoaspartyl/d-aspartyl methyltransferase involved in protein repair Biochem Biophys Res Commun 203 1994 491 497
25. JL Weber PE May Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction Am J Hum Genet 44 1989 388 396
26. Whitehead Institute for Biomedical Research/MIT Center for Genome Research homepage http://www-genome.wi.mit.edu 1997
27. S Yokoi J Austin F Witmer M Sakai Studies in myoclonus epilepsy (Lafora body form). I. Isolation and preliminary characterization of Lafora bodies in two cases Arch Neurol 19 1968 15 33