Genetic locus heterogeneity in Lafora's progressive myoclonus epilepsy.

作者信息

Minassian B A, Sainz J, Serratosa J M, Gee M, Sakamoto L M, Bohlega S, Geoffroy G, Barr C, Scherer S W, Tomiyasu U, Carpenter S, Wigg K, Sanghvi A V, Delgado-Escueta A V

机构信息

Department of Neurology, University of California, Los Angeles School of Medicine, West Los Angeles DVA Medical Center, 90073, USA.

出版信息

Ann Neurol. 1999 Feb;45(2):262-5. doi: 10.1002/1531-8249(199902)45:2<262::aid-ana20>3.0.co;2-9.

DOI:10.1002/1531-8249(199902)45:2<262::aid-ana20>3.0.co;2-9

PMID:9989632

Abstract

In 1995, we mapped a gene for Lafora's progressive myoclonus epilepsy in chromosome 6q23-25. In 1997 and 1998, we reduced the size of the locus to 300 kb, and an international collaboration identified mutations in the protein tyrosine phosphatase gene. Here, we examine for heterogeneity through the admixture test in 22 families and estimate the proportion of linked families to be 75 to 85%. Extremely low posterior probabilities of linkage (Wi), exclusionary LOD scores, and haplotypes identify 4 families unlikely to be linked to chromosome 6q24.

摘要