Symptomatic treatment in the fragile X-associated tremor/ataxia syndrome.
There is no established treatment for the neurological features of the recently discovered fragile X-associated tremor/ataxia syndrome (FXTAS). Fifty-six patients with FXTAS completed a questionnaire to determine whether any medications had been effective for neurological symptoms. Of 11 subjects with definite FXTAS, 8 (70%) were on medications for their neurological symptoms, whereas most subjects with possible or probable FXTAS, 31 (70%) of 45 subjects, were not on medications. Although no therapy was uniformly effective for intention tremor, ataxia, Parkinsonism, memory loss, or anxiety, some subjects with intention tremor or Parkinsonism reported improvement with medications frequently used in other movement disorders. Overall, all 22 subjects on medications reported improvement in one or more symptoms. Lack of insight, recall bias, and cognitive impairment may have resulted in an underestimation of the beneficial effect of medical therapy. This study suggests that patients with FXTAS can derive improvement from medication treatment for some of their symptoms.
Hall
Deborah A
DA
Department of Neurology, University of Colorado Health Sciences Center at Denver, Denver, Colorado 80262, USA. deborah.hall@uchsc.edu
Berry-Kravis
Elizabeth
E
Hagerman
Randi J
RJ
Hagerman
Paul J
PJ
Rice
Cathlin D
CD
Leehey
Maureen A
MA
D000319:Adrenergic beta-Antagonists / Q000627:therapeutic use; D000368:Aged; D001008:Anxiety Disorders / Q000188:drug therapy; D001569:Benzodiazepines / Q000627:therapeutic use; D002230:Carbidopa / Q000627:therapeutic use; D002491:Central Nervous System Agents / Q000627:therapeutic use*; D002524:Cerebellar Ataxia / Q000188:drug therapy*; D002800:Cholinesterase Inhibitors / Q000627:therapeutic use; D018491:Dopamine Agonists / Q000627:therapeutic use; D005260:Female; D005600:Fragile X Syndrome / Q000188:drug therapy*; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use; D008297:Male; D008569:Memory Disorders / Q000188:drug therapy; D008875:Middle Aged; D009460:Neurologic Examination / Q000187:drug effects; D020734:Parkinsonian Disorders / Q000188:drug therapy*; D017367:Selective Serotonin Reuptake Inhibitors / Q000627:therapeutic use; D016896:Treatment Outcome; D014202:Tremor / Q000188:drug therapy*
D000319:Adrenergic beta-Antagonists; D001569:Benzodiazepines; D002230:Carbidopa; D002491:Central Nervous System Agents; D002800:Cholinesterase Inhibitors; D018491:Dopamine Agonists; D007980:Levodopa; D017367:Selective Serotonin Reuptake Inhibitors