Hereditary juvenile-onset craniocervical predominant generalized dystonia with parkinsonism

Citation
A. Mazarib et al., Hereditary juvenile-onset craniocervical predominant generalized dystonia with parkinsonism, ISR MED ASS, 2(7), 2000, pp. 529-531
Citations number
18
Language
INGLESE
art.tipo
Article
Categorie Soggetti
General & Internal Medicine
Journal title
ISRAEL MEDICAL ASSOCIATION JOURNAL
ISSN journal
1565-1088 → ACNP
Volume
2
Issue
7
Year of publication
2000
Pages
529 - 531
Database
ISI
SICI code
1565-1088(200007)2:7<529:HJCPGD>2.0.ZU;2-4
Abstract
Objective: To report a unique hereditary, juvenile onset, craniocervical pr edominant, generalized dystonia and parkinsonism affecting four members of one family. Family Description: A father and three of his four daughters presented to u s over the past 30 years with a similar picture of generalized dystonia, st arting 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 ex cluded 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 whi le parkinsonism becomes the predominant problem later in life. A search for the genetic mutation in this family is underway.