H. Tanaka et al., THE GENE FOR HEREDITARY PROGRESSIVE DYSTONIA WITH MARKED DIURNAL FLUCTUATION MAPS TO CHROMOSOME 14Q, Annals of neurology, 37(3), 1995, pp. 405-408
Hereditary progressive dystonia with marked diurnal fluctuation (HPD)
is a childhood-onset, postural dystonia that is characterized by marke
d diurnal fluctuation and a dramatic response to levodopa. Recently, t
he gene for dopa-responsive dystonia (DRD), an autosomal dominant dyst
onia showing similarly marked response to levodopa, has been mapped to
chromosome 14q. Since HPD and DRD share many clinical characteristics
, we have analyzed microsatellite polymorphisms in the region of the D
RD locus and obtained a maximal lod score of 2.0 at D14S52 without obl
igate recombination events in the affected individuals. The results st
rongly suggest that HPD and DRD are to be caused by mutations in the s
ame gene on:the long arm of chromosome 14.