"The existence of FXTAS provides us with a powerful new key to understanding the FMR1 gene, and fragile X syndrome."
Carriers of premutation (CGG) expansions
of the fragile X gene are generally thought to be spared most of the problems associated with the full mutation; however, a newly identified neurological disorder, involving progressively
severe tremor and difficulty
with walking and balance, appears to specifically affect some older premutation carriers, generally grandfathers of children with fragile X syndrome. Although this neurological disorder occurs by a completely separate mechanism from
fragile X syndrome—and affects different individuals, it is caused by the same gene, and therefore opens a new portal for understanding how the fragile X gene works.
Carriers of premutation (CGG) expansions
of the fragile X gene are generally thought to be spared most of the problems associated with the full mutation; however, a newly identified neurological disorder, involving progressively
