ABSTRACT
The Val66Met polymorphism in the brain-derived neurotrophic factor (BDNF) gene may modulate the epilepsy phenotype. We investigated the impact of polymorphisms in the BDNF gene on clinical features in fragile X syndrome (FXS). In our study sample, the Met66 allele associated with epilepsy of finnish FXS men. Abnormalities in BDNF-mediated plasticity are shown in FXS and the present data suggest that the Met66 allele might predispose FXS males to epilepsy.
Subject(s)
Brain-Derived Neurotrophic Factor/genetics , Epilepsy/complications , Epilepsy/genetics , Fragile X Syndrome/complications , Fragile X Syndrome/genetics , Polymorphism, Genetic/genetics , Adolescent , Adult , Aged , DNA Mutational Analysis , Finland , Humans , Male , Methionine/genetics , Middle Aged , Valine/genetics , Young AdultSubject(s)
Demyelinating Diseases/diagnosis , Motor Neuron Disease/diagnosis , Motor Neurons/pathology , Adult , Aged , Cyclophosphamide/administration & dosage , Demyelinating Diseases/drug therapy , Demyelinating Diseases/epidemiology , Drug Therapy, Combination , Female , Finland/epidemiology , Humans , Immunoglobulins, Intravenous/administration & dosage , Incidence , Male , Middle Aged , Motor Neuron Disease/drug therapy , Motor Neuron Disease/epidemiology , Prognosis , Risk Assessment , Severity of Illness IndexABSTRACT
Kabuki syndrome is a rare dysmorphogenic disorder. The central nervous system is often involved, and epilepsy is a common symptom. The diagnosis is clinical, and no typical electroencephalographic findings have thus far been reported. We have documented temporo-occipital spikes in sleep electroencephalogram in all our three Kabuki patients. The location of the spikes was similar in all cases although their occurrence varied from continuous spiking to single spikes. We suggest that temporo-occipital spikes are typical in Kabuki syndrome and discuss the possible cause of this finding.
