The seizure history of 136 patients with fragile X syndrome (FXS), (age range 2 to 51 years; 113 males and 23 females), were reviewed at RUSH-Presbyterian-St Luke’s Medical Center, Chicago, IL. Seizures occurred in 13.3% of males with FXS and 4.3% of females; and the majority were partial seizures. Epileptiform EEGs were found in 77% individuals with seizures and 23% of those without, most commonly centrotemporal spikes. Seizures were easily controlled in 14 of 16 treated. Benign rolandic epilepsy was the most common epilepsy syndrome in FXS patients, all of whom showed remission. A specific relation between absence of fragile X mental retardation protein and benign rolandic epilepsy with centrotemporal spikes is suggested. [1]
COMMENT. Complex partial seizures are the most common seizure type and benign rolandic epilepsy with centrotemporal spikes in the EEG the most common epilepsy syndrome in patients with fragile X syndrome. Seizures in FXS are easily controlled with anticonvulsants and are usually limited to childhood. Seizures are less frequent in girls with FXS than in boys, attesting to the milder phenotypic manifestations of FXS in girls.
Fragile X carrier state may underlie a diagnosis of essential tremor in older male patients, according to a report of 2 fragile X carriers (ages 68 and 63 years) seen at the University of Colorado, Denver, and University of Toronto, Ontario [2]. In addition to a disabling intention tremor, the patients had impaired tandem gait, generalized brain atrophy with frontal psychological deficits, and T2 middle cerebellar hyperintensities on MRI. Both had elevated FXMR gene 1 messenger RNA and reduced FXMR 1 protein.