Benign paroxysmal tonic upgaze of childhood with ataxia. A neuro-ophthalmological syndrome of familial origin?
A new neuro-ophthalmological syndrome has been described recently, consisting of paroxysmal tonic upward deviation of the eyes with ataxia. Episodes occur daily and are always relieved by sleep. Onset is usually under one year of age and the symptoms gradually disappear during childhood. The authors describe three new patients in whom an autosomal dominant mode of inheritance was a constant finding, as well as clumsiness and delayed acquisition of independent gait. Treatment with levodopa was of clear benefit.
Neuropediatric Service, Hospital Infantil San Juan de Dios, Barcelona, Spain.
J
J
Campistol
J M
JM
Prats
C
C
Garaizar
D000367:Age Factors; D001259:Ataxia / Q000175:diagnosis / Q000235:genetics; D002230:Carbidopa / Q000627:therapeutic use; D005133:Eye Movements; D005190:Family; D006801:Humans; D007223:Infant; D007980:Levodopa / Q000627:therapeutic use; D008297:Male; D009069:Movement Disorders / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D015835:Ocular Motility Disorders / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D011187:Posture; D012890:Sleep; D013577:Syndrome
D007980:Levodopa; D002230:Carbidopa