title: Familial dopa-responsive cervical dystonia.
abstract: The authors present four cases from two unrelated families with young-onset predominant cervical dystonia with a dramatic sustained response to levodopa. Onset age was 12 years (range 9 to 15). Additional symptoms included postural hand tremor and laryngeal dystonia. Genetic testing for GTP cyclohydrolase I, tyrosine hydroxylase, and sepiapterin reductase was negative. These cases may represent new forms of dopa-responsive dystonia. Levodopa is advisable in all patients with young-onset cervical dystonia.
authors.affiliation: Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, UCL, London, UK.
authors.forename: S A
authors.initials: SA
authors.lastname: Schneider
authors.forename: M D
authors.initials: MD
authors.lastname: Mohire
authors.forename: I
authors.initials: I
authors.lastname: Trender-Gerhard
authors.forename: F
authors.initials: F
authors.lastname: Asmus
authors.forename: M
authors.initials: M
authors.lastname: Sweeney
authors.forename: M
authors.initials: M
authors.lastname: Davis
authors.forename: T
authors.initials: T
authors.lastname: Gasser
authors.forename: N W
authors.initials: NW
authors.lastname: Wood
authors.forename: K P
authors.initials: KP
authors.lastname: Bhatia
mesh_terms: D000293:Adolescent; D000328:Adult; D000978:Antiparkinson Agents / Q000627:therapeutic use; D002230:Carbidopa / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007514:Islam; D007980:Levodopa / Q000627:therapeutic use*; D008297:Male; D010375:Pedigree; D035781:Siblings; D014103:Torticollis / Q000188:drug therapy* / Q000235:genetics
chemical_list: D000978:Antiparkinson Agents; D007980:Levodopa; D002230:Carbidopa