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Hereditary progressive dystonia with marked diurnal fluctuation

  • M. Segawa
  • Y. Nomura
Part of the Key Topics in Brain Research book series (KEYTOPICS)

Summary

Hereditary progressive dystonia with marked diurnal fluctuation is a particular levodopa-responsive dystonia with onset in childhood. Clinically, it is characterized by generalized postural dystonia which becomes aggravated towards evening and is markedly alleviated in the morning after sleep. There was no axial torsion or action dystonia observed. In later life, it is associated with postural tremor, not parkinsonian resting tremor. The freezing phenomenon or petit pas is not present, and locomotive activity is maintained even in advanced stages. Although symptoms progress in the first 3 decades of life, they become static afterwards. Levodopa shows marked and sustained effects without unfavorable side effects. Autosomal dominant inheritance with low penetrance is suspected, but there is marked female predominance. The main lesion is thought to be a hypofunctioning of tyrosine hydroxylase in the terminal of the nigrostriatal dopamine neuron which mainly affects the direct striatal projections to the pars reticulata of the substantia nigra and the medial segment of the globus pallidus.

Keywords

Globus Pallidus Diurnal Fluctuation Postural Tremor Axial Torsion Torsion Dystonia 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag/Wien 1991

Authors and Affiliations

  • M. Segawa
    • 1
  • Y. Nomura
    • 1
  1. 1.Segawa Neurological Clinic for ChildrenChiyodaku, Tokyo 101Japan

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