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Hereditary progressive dystonia with marked diurnal fluctuation

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Parkinson’s Disease. From Clinical Aspects to Molecular Basis

Part of the book series: Key Topics in Brain Research ((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.

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Authors and Affiliations

  1. Segawa Neurological Clinic for Children, Segawa Building 2 Fl., 2-8 Surugadai Kanda, Chiyodaku, Tokyo 101, Japan

    Dr. M. Segawa & Y. Nomura

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  1. Dr. M. Segawa
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  2. Y. Nomura
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Editors and Affiliations

  1. Department of Neurochemistry, Fujita Health University, Aichi, Japan

    Toshiharu Nagatsu

  2. Neurological Clinic, Tokyo, Japan

    Hirotaro Narabayashi

  3. Department of Neurology, Jichi Medical School, Tochigi-ken, Japan

    Mitsuo Yoshida

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© 1991 Springer-Verlag/Wien

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Segawa, M., Nomura, Y. (1991). Hereditary progressive dystonia with marked diurnal fluctuation. In: Nagatsu, T., Narabayashi, H., Yoshida, M. (eds) Parkinson’s Disease. From Clinical Aspects to Molecular Basis. Key Topics in Brain Research. Springer, Vienna. https://doi.org/10.1007/978-3-7091-9146-0_17

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  • DOI: https://doi.org/10.1007/978-3-7091-9146-0_17

  • Publisher Name: Springer, Vienna

  • Print ISBN: 978-3-211-82272-2

  • Online ISBN: 978-3-7091-9146-0

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