title: Hereditary juvenile-onset craniocervical predominant generalized dystonia with parkinsonism.
abstract: OBJECTIVE
  To report a unique hereditary, juvenile onset, craniocervical predominant, generalized dystonia and parkinsonism affecting four members of one family.
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Neurology, Tel Aviv Sourasky Medical Center, Tel Aviv University, Haifa, Israel.
authors.forename: A
authors.initials: A
authors.lastname: Mazarib
authors.forename: E S
authors.initials: ES
authors.lastname: Simon
authors.forename: A D
authors.initials: AD
authors.lastname: Korczyn
authors.forename: Z
authors.initials: Z
authors.lastname: Falik-Zaccai
authors.forename: E
authors.initials: E
authors.lastname: Gazit
authors.forename: N
authors.initials: N
authors.lastname: Giladi
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D015897:Comorbidity; D020821:Dystonic Disorders / Q000453:epidemiology / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000453:epidemiology; D008297:Male; D010300:Parkinson Disease / Q000453:epidemiology / Q000235:genetics*; D010375:Pedigree