Rapid-onset dystonia-parkinsonism

Linkage to chromosome 19q13

Patricia L. Kramer, Mari Mineta, Christine Klein, Karla Schilling, Deborah De Leon, Martin Farlow, Xandra O. Breakefield, Susan B. Bressman, William B. Dobyns, Laurie J. Ozelius, Allison Brashear

Research output: Contribution to journalArticle

62 Citations (Scopus)

Abstract

Rapid-onset dystonia-parkinsonism (RPD) is an autosomal dominant movement disorder characterized by sudden onset of persistent dystonia and parkinsonism, generally during adolescence or early adulthood. Symptoms evolve over hours or days, and generally stabilize within a few weeks, with slow or no progression. Other features include little or no response to L- dopa, and low levels of homovanillic acid in the central nervous system. Neuroimaging studies indicate no degeneration of dopaminergic nerve terminals in RDP, suggesting that this disorder results from a functional deficit, as in dystonia, rather than neuronal loss, as in Parkinson's disease. We studied 81 members of two midwestern US families with RDP, 16 of whom exhibited classic features of RDP. We found significant evidence for linkage in these two families to markers on chromosome 19q13, with the highest multipoint LOD score at D19S198 (z = 5.77 at 0 = 0.0). The flanking markers D19S587 and D19S900 define a candidate region of approximately 8 cM. Although RDP itself is a rare condition, it is important because it has clinical and biochemical similarities to both Parkinson's disease and dystonia. Identification of the genetic defect in RDP holds promise for understanding the underlying disease processes of both of these more common diseases.

Original languageEnglish
Pages (from-to)176-182
Number of pages7
JournalAnnals of Neurology
Volume46
Issue number2
DOIs
StatePublished - 1999

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Dystonia
Chromosomes
Parkinson Disease
Nerve Degeneration
Homovanillic Acid
Movement Disorders
Parkinsonian Disorders
Levodopa
Genetic Markers
Neuroimaging
Central Nervous System
Dystonia 12

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Kramer, P. L., Mineta, M., Klein, C., Schilling, K., De Leon, D., Farlow, M., ... Brashear, A. (1999). Rapid-onset dystonia-parkinsonism: Linkage to chromosome 19q13. Annals of Neurology, 46(2), 176-182. https://doi.org/10.1002/1531-8249(199908)46:2<176::AID-ANA6>3.0.CO;2-2

Rapid-onset dystonia-parkinsonism : Linkage to chromosome 19q13. / Kramer, Patricia L.; Mineta, Mari; Klein, Christine; Schilling, Karla; De Leon, Deborah; Farlow, Martin; Breakefield, Xandra O.; Bressman, Susan B.; Dobyns, William B.; Ozelius, Laurie J.; Brashear, Allison.

In: Annals of Neurology, Vol. 46, No. 2, 1999, p. 176-182.

Research output: Contribution to journalArticle

Kramer, PL, Mineta, M, Klein, C, Schilling, K, De Leon, D, Farlow, M, Breakefield, XO, Bressman, SB, Dobyns, WB, Ozelius, LJ & Brashear, A 1999, 'Rapid-onset dystonia-parkinsonism: Linkage to chromosome 19q13', Annals of Neurology, vol. 46, no. 2, pp. 176-182. https://doi.org/10.1002/1531-8249(199908)46:2<176::AID-ANA6>3.0.CO;2-2
Kramer, Patricia L. ; Mineta, Mari ; Klein, Christine ; Schilling, Karla ; De Leon, Deborah ; Farlow, Martin ; Breakefield, Xandra O. ; Bressman, Susan B. ; Dobyns, William B. ; Ozelius, Laurie J. ; Brashear, Allison. / Rapid-onset dystonia-parkinsonism : Linkage to chromosome 19q13. In: Annals of Neurology. 1999 ; Vol. 46, No. 2. pp. 176-182.
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