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| LINKAGE STUDIES IN PROGRESSIVE MYOCLONUS EPILEPSY - UNVERRICHT-LUNDBORG AND LAFORAS DISEASES |
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| Author(s): LEHESJOKI AE, KOSKINIEMI M, PANDOLFO M, ANTONELLI A, KYLLERMAN M, WAHLSTROM J, NERGARDH A, BURMEISTER M, SISTONEN P, NORIO R, DELACHAPELLE A |
| Source: NEUROLOGY Volume: 42 Issue: 8 Pages: 1545-1550 Published: AUG 1992 |
| Times Cited: 51 References: 35 |
| Abstract: The progressive myoclonus epilepsies (PME) are a heterogeneous group of rare genetic disorders. Unverricht-Lundborg disease and Lafora's disease are two major classic forms of PME. We recently assigned the gene for Unverricht-Lundborg disease (EPM1) to human chromosome 21 band q22.3. We have now refined the localization of EPM1 by linkage analysis between the disease phenotype and nine DNA markers in 13 Finnish families. Loci MX1 and CD18 flank the EPM1 interval, which spans a distance of about 3.5 megabases. In this 20-centimorgan interval, no recombinations were detected between EPM1 and marker loci BCEI, D21S19, D21S42, D21S113, D21S154, and PFKL. Within this interval a maximum multipoint lod score of 11.04 was reached at loci D21S154-PFKL. In two Swedish families with Unverricht-Lundborg disease no recombinations were detected. In three Italian families with Lafora's disease the linkage results suggested that EPM1 is not the locus for Lafora's disease. |
| Document Type: Article |
| Language: English |
| Reprint Address: LEHESJOKI, AE (reprint author), UNIV HELSINKI, DEPT MED GENET, HAARTMANINKATU, SF-00290 HELSINKI 29, FINLAND |
Addresses:
1. UNIV HELSINKI, DEPT VIROL, SF-00290 HELSINKI 29, FINLAND
2. FOLKHALSAN INST GENET, HELSINKI, FINLAND
3. IST NEUROCHIRURG C BESTA, DIV BIOCHIM & GENET SISTEMA NERVOSO, I-20133 MILAN, ITALY
4. OSTRA HOSP, DEPT PEDIAT 2, GOTHENBURG, SWEDEN
5. OSTRA HOSP, DEPT PEDIAT, GOTHENBURG, SWEDEN
6. KAROLINSKA HOSP, DEPT PEDIAT, S-10401 STOCKHOLM 60, SWEDEN
7. UNIV MICHIGAN, MENTAL HLTH RES INST, ANN ARBOR, MI 48109 USA
8. FINNISH RED CROSS & BLOOD TRANSFUS SERV, HELSINKI, FINLAND
9. FINNISH POPULAT & FAMILY WELF FEDERAT, DEPT MED GENET, HELSINKI, FINLAND |
| Publisher: LIPPINCOTT-RAVEN PUBL, 227 EAST WASHINGTON SQ, PHILADELPHIA, PA 19106 |
| Subject Category: Clinical Neurology |
| IDS Number: JH221 |
| ISSN: 0028-3878 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |