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Title: Paroxysmal dystonic choreoathetosis: Tight linkage to chromosome 2q

Abstract

Paroxysmal dystonic choreoathetosis (PDC) is characterized by attacks of involuntary movements that last up to several hours and occur at rest both spontaneously and following caffeine or alcohol consumption. We analyzed a Polish-American kindred with autosomal dominant PDC and identified tight linkage between the disorder and microsatellite markers on chromosome 2q (maximum two-point LOD score 4.77; recombination fraction 0). Our results clearly establish the existence of a locus for autosomal dominant PDC on distal chromosome 2q. The fact that three other paroxysmal neurological disorders (periodic ataxia with myokymia and hypo- and hyperkalemic periodic paralysis) are due to mutation in ion-channel genes raises the possibility that PDC is also due to an ion-channel gene mutation. It is noteworthy that a cluster of sodium-channel genes is located on distal chromosome 2q, near the PDC locus. Identifying the PDC locus on chromosome 2q will facilitate discovery whether PDC is genetically homogeneous and whether other paroxysmal movement disorders are also genetically linked to the PDC locus. 28 refs., 2 figs., 1 tab.

Authors:
; ; ;  [1]
  1. Univ. of Michigan, Ann Arbor, MI (United States) [and others
Publication Date:
OSTI Identifier:
443745
Resource Type:
Journal Article
Resource Relation:
Journal Name: American Journal of Human Genetics; Journal Volume: 59; Journal Issue: 1; Other Information: PBD: Jul 1996
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; PATIENTS; HEREDITARY DISEASES; PHENOTYPE; NERVOUS SYSTEM DISEASES; GENOTYPE; GENES; GENE MUTATIONS; GENETIC MAPPING; HUMAN CHROMOSOME 2; C CODES; DOMINANT MUTATIONS; STATISTICS; GENETICS; BIOLOGICAL MARKERS; PORINS

Citation Formats

Fink, J.K., Rainier, S., Wilkowski, J., and Jones, S.M. Paroxysmal dystonic choreoathetosis: Tight linkage to chromosome 2q. United States: N. p., 1996. Web.
Fink, J.K., Rainier, S., Wilkowski, J., & Jones, S.M. Paroxysmal dystonic choreoathetosis: Tight linkage to chromosome 2q. United States.
Fink, J.K., Rainier, S., Wilkowski, J., and Jones, S.M. Mon . "Paroxysmal dystonic choreoathetosis: Tight linkage to chromosome 2q". United States. doi:.
@article{osti_443745,
title = {Paroxysmal dystonic choreoathetosis: Tight linkage to chromosome 2q},
author = {Fink, J.K. and Rainier, S. and Wilkowski, J. and Jones, S.M.},
abstractNote = {Paroxysmal dystonic choreoathetosis (PDC) is characterized by attacks of involuntary movements that last up to several hours and occur at rest both spontaneously and following caffeine or alcohol consumption. We analyzed a Polish-American kindred with autosomal dominant PDC and identified tight linkage between the disorder and microsatellite markers on chromosome 2q (maximum two-point LOD score 4.77; recombination fraction 0). Our results clearly establish the existence of a locus for autosomal dominant PDC on distal chromosome 2q. The fact that three other paroxysmal neurological disorders (periodic ataxia with myokymia and hypo- and hyperkalemic periodic paralysis) are due to mutation in ion-channel genes raises the possibility that PDC is also due to an ion-channel gene mutation. It is noteworthy that a cluster of sodium-channel genes is located on distal chromosome 2q, near the PDC locus. Identifying the PDC locus on chromosome 2q will facilitate discovery whether PDC is genetically homogeneous and whether other paroxysmal movement disorders are also genetically linked to the PDC locus. 28 refs., 2 figs., 1 tab.},
doi = {},
journal = {American Journal of Human Genetics},
number = 1,
volume = 59,
place = {United States},
year = {Mon Jul 01 00:00:00 EDT 1996},
month = {Mon Jul 01 00:00:00 EDT 1996}
}