Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurological disorder that affects older adult carriers, predominantly males, of premutation alleles (55 to 200 CGG repeats) of the fragile X (FMR1) gene. Principal features of FXTAS are intention tremor, ataxia, parkinsonism, cognitive decline, and peripheral neuropathy; ancillary features include, autonomic dysfunction, and psychiatric symptoms of anxiety, depression, and disinhibition. Although controlled trials have not been carried out in individuals with FXTAS, there is a significant amount of anecdotal information regarding various treatment modalities. Moreover, there exists a great deal of evidence regarding the efficacy of various medications for treatment of other disorders (eg, Alzheimer disease) that have substantial phenotypic overlap with FXTAS. The current review summarizes what is currently known regarding the symptomatic treatment, or potential for treatment, of FXTAS.
Hagerman
Randi J
RJ
MIND Institute, University of California, Davis, School of Medicine, Sacramento, CA 95817, USA. randi.hagerman@ucdmc.ucdavis.edu
Hall
Deborah A
DA
Coffey
Sarah
S
Leehey
Maureen
M
Bourgeois
James
J
Gould
John
J
Zhang
Lin
L
Seritan
Andreea
A
Berry-Kravis
Elizabeth
E
Olichney
John
J
Miller
Joshua W
JW
Fong
Amy L
AL
Carpenter
Randall
R
Bodine
Cathy
C
Gane
Louise W
LW
Rainin
Edgar
E
Hagerman
Hillary
H
Hagerman
Paul J
PJ
D000368:Aged; D000369:Aged, 80 and over; D001259:Ataxia / Q000235:genetics / Q000628:therapy*; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics; D020271:Heredodegenerative Disorders, Nervous System / Q000235:genetics / Q000628:therapy*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D020734:Parkinsonian Disorders / Q000235:genetics / Q000628:therapy
D051860:Fragile X Messenger Ribonucleoprotein 1