[Fragile X tremor ataxia syndrome (FXTAS): a new kind of spinocerebelar ataxia associated to fragile X syndrome premutation carriers].
OBJECTIVE
It has been estimated that 1:1233 males and 1:411 females are FMR1 premutated carriers. This gene is responsible for the fragile X syndrome.


METHODS
Among 398 fragile X syndrome families, we evaluated 112 premutated carriers older than 50 year.


RESULTS
FXTAS penetrance among fragile X families was 10.7% for female premutated carriers and 29.7% for male premutated carriers. In the general population, it was estimated that 1:4,000 females and 1:5,000 males will develop the FXTAS syndrome.


CONCLUSIONS
Besides the risk for fragile X syndrome, the genetic counseling in premutation carriers should mention the risk for FXTAS. This syndrome should also be taken into account among spinocerebelar ataxia patients with an unknown etiology.
Milà
Montserrat
M
Servicio de Bioquímica y Genética Molecular, Hospital Clínic, Barcelona, España. mmila@clinic.ub.es
Madrigal
Irene
I
Kulisevsky
Jaime
J
Pagonabarraga
Javier
J
Gómez
Beatriz
B
Sánchez
Aurora
A
Rodríguez-Revenga
Laia
L
D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D019683:Penetrance; D020754:Spinocerebellar Ataxias / Q000235:genetics*