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Brain (2000), 123, 2040–2045 A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16 E. M. Valente,1,2,* S. D. Spacey,1,3,* G. M. Wali,4 K. P. Bhatia,1 P. H. Dixon,1 N. W. Wood1 and M. B. Davis1 1Department of Clinical Neurology, Institute of Neurology, Correspondence to: Dr M. B. Davis, Neurogenetics Unit, London, UK, 2Department of Neurology, Catholic Department of Clinical Neurology, Institute of Neurology, University, Rome, Italy, 3Division of Neurology, University Queen Square, London WC1N 3BG, UK of British Columbia, Vancouver, Canada and 4KLE Society E-mail: m.davis@ion.ucl.ac.uk Hospital, Belguam, Karnataka, India *These authors contributed equally to this work Summary Paroxysmal kinesigenic choreoathetosis (PKC) is a rare have identified a second PKC locus (EKD2) on the long paroxysmal movement disorder characterized by arm of chromosome 16 in a large Indian family with PKC. recurrent and brief attacks of choreiform or dystonic A maximum two-point LOD score of 3.66 (recombination movements triggered or exacerbated by sudden voluntary fraction 0.00, penetrance 0.80) was obtained between movements. Some patients with PKC also have a history PKC and D16S419 . Haplotype and recombinant analysis of infantile afebrile convulsions. PKC can be sporadic, or localized EKD2 to a 15.8 cM region between D16S685 familial with autosomal dominant inheritance. PKC has and D16S503 . This region does not overlap with that been mapped to the pericentromeric region of human ide