Hereditary juvenile-onset craniocervical predominant generalized dystonia with parkinsonism

A. Mazarib, E. S. Simon, A. D. Korczyn, Z. Falik-Zaccai, E. Gazit, N. Giladi

Research output: Contribution to journalArticlepeer-review

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Objective: To report a unique hereditary, juvenile onset, craniocervical predominant, generalized dystonia and parkinsonism affecting four members of one family. Family description: A father and three of his four daughters presented to us over the past 30 years with a similar picture of generalized dystonia, starting in the craniocervical region in the second or third decade of life. They later developed moderate parkinsonism, mainly manifesting bradykinesia, rigidity and abnormal postural reflexes. Biochemical and genetic tests excluded Wilson's disease, Huntington's disease and Oppenheim's dystonia. Conclusion: This is a new type of familial dystonia-parkinsonism where the craniocervical dystonic symptoms are most prominent in the early stages while parkinsonism becomes the predominant problem later in life. A search for the genetic mutation in this family is underway.

Original languageEnglish
Pages (from-to)529-531
Number of pages3
JournalIsrael Medical Association Journal
Issue number7
StatePublished - Jul 2000
Externally publishedYes


  • Ashkenazi Jewish
  • Dystonia-parkinsonism
  • Heredity


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