Síndrome de temblor y ataxia asociado a síndrome del cromosoma X frágil: un nuevo tipo de ataxia cerebelosa asociada a los portadores del síndrome del cromosoma X frágil

Background and objectives: It has been estimated that 1:1233 males and 1:411 female sare FMR1 premutated carriers. This gene is responsible for the fragile X syndrome. Patients and method: Among 398 fragile X syndrome families, we evaluated 112 premutated carrier solder 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 in to account among spinocerebelar ataxia patients with an unknown etiology.