Symptomatic treatment in the fragile X-associated tremor/ataxia syndrome

• Published in: Movement disorders 2006-10, Vol.21 (10), p.1741-1744
• Main Authors: Hall, Deborah A., Berry-Kravis, Elizabeth, Hagerman, Randi J., Hagerman, Paul J., Rice, Cathlin D., Leehey, Maureen A.
• Format: Article
• Language: English
• Subjects: Adrenergic beta-Antagonists - therapeutic use; Aged; Anxiety Disorders - drug therapy; ataxia; Benzodiazepines - therapeutic use; Biological and medical sciences; Carbidopa - therapeutic use; Central Nervous System Agents - therapeutic use; Cerebellar Ataxia - drug therapy; Cholinesterase Inhibitors - therapeutic use; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Dopamine Agonists - therapeutic use; Female; fragile X; Fragile X Syndrome - drug therapy; FXTAS; Humans; Levodopa - therapeutic use; Male; Medical sciences; medications; Memory Disorders - drug therapy; Middle Aged; Nervous system (semeiology, syndromes); Nervous system as a whole; Neurologic Examination - drug effects; Neurology; Parkinsonian Disorders - drug therapy; Serotonin Uptake Inhibitors - therapeutic use; Treatment Outcome; tremor; Tremor - drug therapy
• ISSN: 0885-3185; 1531-8257
• DOI: 10.1002/mds.21001

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. © 2006 Movement Disorder Society