Premium
The gene for hereditary progressive dystonia with marked diurnal fluctuation maps to chromosome 14q
Author(s) -
Tanaka H.,
Endo K.,
Tsuji S.,
Nygaard T. G.,
Weeks D. E.,
Nomura Y.,
Segawa M.
Publication year - 1995
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410370319
Subject(s) - dystonia , levodopa , locus (genetics) , obligate , chromosome , genetics , medicine , biology , endocrinology , gene , neuroscience , parkinson's disease , disease , ecology
Hereditary progressive dystonia with marked diurnal fluctuation (HPD) is a childhood‐onset, postural dystonia that is characterized by marked diurnal fluctuation and a dramatic response to levodopa. Recently, the gene for dopa‐responsive dystonia (DRD), an autosomal dominant dystonia 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 DRD locus and obtained a maximal lod score of 2.0 at D14S52 without obligate recombination events in the affected individuals. The results strongly suggest that HPD and DRD are to be caused by mutations in the same gene on the long arm of chromosome 14.