Robert P. Cruse

Learn More
OBJECTIVE Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. It is characterized by hypoplasia of the cerebellar vermis and a particular midbrain-hindbrain "molar tooth" sign, a finding shared by a group of Joubert syndrome-related disorders (JSRDs), with wide phenotypic(More)
Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We show that individuals with CFEOM1 harbor heterozygous missense mutations in a kinesin motor protein encoded by KIF21A. We identified six different mutations in 44 of 45 probands. The(More)
Three pediatric patients with generalized status epilepticus unresponsive to therapy with conventional anticonvulsants were successfully treated with moderate hypothermia (30 degrees to 31 degrees C) and barbiturate coma with thiopental. All 3 patients were treated with thiopental at doses producing burst suppression or an isoelectric tracing on the EEG and(More)
This is the first epilepsy surgery series to analyze the definition of "completeness" of resection, based solely on results of chronic scalp and subdural EEG recording. When patients had complete removal of all cortical areas with ictal and interictal epileptiform discharges, the clinical outcome was usually good. When areas with epileptiform discharges(More)
Few detailed studies have examined the long-term outcome of complex partial seizures (CPS) in children and adolescents. Previous studies have selected patients on clinical criteria only or have included those with benign focal epileptiform discharges of childhood, nonepileptiform sharp transients, and generalized epileptiform discharges. We have followed up(More)
Initial reports described Tourette syndrome as a lifelong disorder. Since then, others have noted that some patients experience remissions during late adolescence. To examine this issue, we sent questionnaires to 99 patients with Tourette syndrome who were 15 to 25 years old. The majority of the 58 respondents indicated that they had fewer tics as they(More)
Recently, mutations in the genes encoding several of the dystrophin-associated proteins have been identified that produce phenotypes ranging from severe Duchenne-like autosomal recessive muscular dystrophy to the milder limb-girdle muscular dystrophies (LGMDs). LGMD type 2C is generally associated with a more severe clinical course and is prevalent in(More)
Cerebro-ocular dysplasia-muscular dystrophy (COD-MD) syndrome is a rare disorder encompassing a triad of brain, eye, and muscle abnormalities. The principal central nervous system features are cerebral and cerebellar agyria-micropolygyria, cortical disorganization, glial-mesodermal proliferation within the leptomeninges, neuronal heterotopias, hypoplasia of(More)
To study the distribution of the early (first 80 ms) human cortical potentials evoked by stimulation of the posterior tibial nerve at the ankle, scalp electrodes were placed within a 12-cm radius from the vertex and were separated by approximately 3 cm. With unilateral stimulation the response at the hemisphere ipsilateral to the stimulus was consistently(More)