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PubMed1999

Dissociated vertical divergence: a righting reflex gone wrong.

Dissociated vertical divergence (DVD) is an ocular motor disorder characterized by a slow, upward drift of 1 eye when the other eye is fixating a target. I propose that DVD is a dorsal light reflex in which asymmetrical visual input to the 2 eyes evokes a vertical divergence movement of the eyes. This primitive visuo-vestibular reflex functions as a righting response to restore vertical orientation in lower lateral-eyed animals by equalizing binocular visual input. The dorsal light reflex is suppressed in humans but can manifest as DVD when early-onset strabismus precludes normal binocular development.

Animals↗
PubMed1975

Phencyclidine. Nine cases of poisoning.

In nine cases of phencyclidine hydrochloride poisoning, early signs of overdose included drowsiness, nystagmus, miotic pupils, blood pressure elevation, increased deep tendon reflexes, ataxia, anxiety, and agitation. In more severe cases, seizures, spasticity, and opisthotonos were seen in addition to deep coma and respiratory depression. Treatment included removal by emetics or lavage, hydration, and a quiet, reassuring environment. Spasticity, agitation, and ocular manifestions responded to diazepam. Psychiatric intervention was instituted after the patients were stable and no longer agitated.

Adolescent↗
PubMed1999

Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations.

Hyperekplexia (MIM 149400), or startle disease, is a neurological disorder characterized by generalized stiffness during the neonatal period, excessive startle reflexes, and generalized stiffness related to the startle response. Linkage analysis mapped a major gene for this disorder to chromosome 5q33-35. Subsequently, mutations in the GLRA1 gene, encoding the alpha1 subunit of the glycine receptor, were found in hyperekplexia families with an autosomal dominant or recessive inheritance pattern. In the present study, we describe the genetic analysis of the GLRA1 gene of a family consisting of 2 children with hyperekplexia, 2 nonaffected children, and their healthy nonconsanguineous parents. Although the pedigree suggested the presence of a recessive mutation, haplotype construction showed that the 2 affected children shared the same haplotype combination in which the maternal haplotype differed from the paternal haplotype, suggesting the presence of compound heterozygosity. Mutation analysis revealed different missense mutations on the two haplotypes, changing an arginine to a histidine at amino acid positions 252 and 392, respectively. It is interesting that the hyperekplexia phenotype was only seen in individuals compound heterozygous for the two mutations, whereas family members carrying either one of the two mutations had no clinical signs.

Chromosome Mapping↗
PubMed1991

Hyperekplexia: pedigree studies in two families.

We report on 2 unrelated Japanese families, each with several individuals affected with hyperekplexia, a rare autosomal dominant form of exaggerated startle response of neonatal onset. In the first family, affected relatives included a 4-week-old boy, his mother, grandmother, a maternal uncle, and 2 maternal cousins. In the second family, affected were a 4-week-old boy, his father, and an elder brother. These 9 individuals had various combinations of transient infantile hypertonia and hypokinesia, exaggerated startle response with falling episodes, nocturnal myoclonus and an easily elicited head retraction reflex, hip dislocation, and umbilical hernia. Treatment with clonazepam was effective in relieving these manifestations in the affected infants and children. Genetic analysis of these 2 families and 4 others in the literature suggests autosomal dominant inheritance with considerable variability but complete penetrance. Another 3 families in the literature were reported, suggesting the existence of startle disorder with an autosomal recessive inheritance. A sporadic case is also known, presumably representing a fresh mutation of a dominantly inherited trait.

Adolescent↗
PubMed1977

Tonic pupils with acute ophthalmoplegic polyneuritis.

Two patients with the symmetrical ophthalmoplegic variant of acute idiopathic polyneuritis (Fisher's syndrome) developed bilateral dilated pupils with cholinergic supersensitivity and light-near dissociation (tonic pupils), indicating involvement of the postganglionic parasympathetic neuron within the orbit. Supranuclear eye movement dysfunction also was present, indicated by relative levator sparing in both patients and by preservation of Bell's phenomenon in 1 patient despite paralysis of voluntary upward gaze. The lesions that produce the eye signs of ophthalmoplegic polyneuritis are not necessarily restricted to the cranial nerve trunks. The present cases support a relationship between the ophthalmoplegic variant of the Guillain-Barré syndrome and acute postinfectious encephalomyelitis (brainstem encephalitis) on the one hand, and idiopathic autonomic neuropathies such as the Holmes-Adie syndrome and pandysautonomia on the other.

Adult↗
PubMed1978

Attenuated dynamic responses of primary endings of muscle spindles: a basis for depressed tendon responses in acrylamide neuropathy.

Depressed or lost tendon reflexes commonly observed in patients with peripheral neuropathies may result partly from attenuation of the dynamic discharge from the primary endings of muscle spindles. This possibility was investigated in cats with an experimental neuropathy induced with acrylamide (30 mg/kg/day intramuscularly). Achilles tendon reflexes and the dynamic discharge from primary muscle spindles were evaluated after five or ten injections of acrylamide. After five injections the animals were moderately impaired neurologically, the Achilles tendon reflex was difficult to elicit in 2 of 5 animals, and the dynamic responses of primary endings of soleus muscle spindles to stretch were depressed. Following ten injections of acrylamide the cats were severely impaired neurologically; tendon responses were either absent or difficult to elicit, and the dynamic responses of their muscle spindles to stretch were reduced by 50% (p less than 0.01). Additionally, the spindels responded to stretch with only 20 to 30% the normal number of afferent impulses. These data suggest that lost tendon responses in acrylamide neuropathy result in part from inadequate activation of motoneurons by spindle afferent discharge.

Acrylamides↗
PubMed1979

Primary aberrant third nerve regeneration.

The clinical and neuroradiological features in 4 patients with the syndrome of aberrant regeneration of the third nerve are presented. In contrast to what is commonly seen, the syndrome was not preceded by third nerve palsy. A petrous apex-cavernous sinus meningioma was the underlying lesion in all 4 patients. Surgical and pathological confirmation of the diagnosis was obtained in 3. Regardless of whether the other ocular motor nerves are spared (as in our patients) or involved (as in other cases reported in the literature), primary aberrant regeneration of the oculomotor nerve appears to be characteristic of a cavernous sinus meningioma.

Adult↗
PubMed1988

Posture in Parkinson's disease: impairment of reflexes and programming.

The leg muscle electromyographic responses induced during stance by impulsive displacements of a treadmill belt (directed forward or backward and at different rates) were studied in a group of patients with Parkinson's disease and a group of age-matched healthy subjects. Young normal subjects were also studied both before and after intake of a dopamine antagonist (haloperidol). Compensatory gastrocnemius electromyographic responses resulting from backward-directed displacements were significantly smaller in both the patients and the young normal subjects following intake of haloperidol. The reduced sensitivity of the gastrocnemius muscle to stretch correlated with an inability to compensate for the perturbations. In the patients, the gastrocnemius response was followed by enhanced activation of the tibialis anterior muscle. This was not the case in the normal subjects after intake of dopamine antagonist and is probably not, therefore, the consequence of acute dopamine deficiency. In the patients the angular rotation at the ankle joint induced during faster backward-directed displacements was slower than that in normal subjects, despite identical amounts of gastrocnemius electromyographic activity. This supports earlier findings of changes in intrinsic muscle stiffness in Parkinson's disease. None of these differences were seen when the tibialis anterior muscle was stretched. This differential behavior of the antagonist leg muscles can best be explained by the different function fulfilled by these muscles in regulation of stance and gait.

Adult↗
PubMed2002

Major and minor form of hereditary hyperekplexia.

Hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. Within the disorder two clinical forms can be distinguished. The major form is characterized by continuous generalized stiffness in the first year of life and an exaggerated startle reflex, accompanied by temporary generalized stiffness and falls, whereas in the minor form only excessive startle and hypnic jerks have been described. Mutations in the gene encoding the alpha-1 subunit of the glycine receptor (GLRA1) are responsible for the major form of hyperekplexia but no mutation was detected in patients with the minor form in the large Dutch pedigree originally described by Suhren and colleagues. Here we describe the genetic analysis of the GLRA1 gene of two English families in which both forms of hyperekplexia were present. Mutation analysis revealed no genetic defect in the GLRA1 gene in patients carrying either the minor or major forms. This is further evidence that the minor form of hyperekplexia is seldom due to a genetic defect in the GLRA1 gene.

Adolescent↗
PubMed2005

Trigeminally induced startle in children with hyperekplexia.

To determine the physiological features of startle reactions in children with hereditary hyperekplexia, motor responses to auditory and trigeminal stimulation were investigated in 2 patients and 3 control subjects by means of multiple surface electromyographic recordings. The pattern of motor activation in auditory startle was similar in the two groups, although the responses in the patients were increased in terms of the extent of the responses. In the patients, nose taps elicited two separate responses in various muscles. The initial, short-latency response was often elicited in all the muscles examined. This reflex was similar to the R1 component of the electrical blink reflex. In addition, the early reflex was immediately followed by the second response, which also appeared widely and was similar to R2 of the blink reflex. Taps on the supraorbital nerve elicited multiple startle patterns consisting of these two responses, although generalization was infrequent. In the control subjects, these responses were elicited in a few muscles. In the hyperekplectic children, both the early and second responses to trigeminal stimulation were increased, in addition to the audiogenic reflex. It was suggested that enhancement of these responses occurred due to hyperexcitability in the brainstem reticular formation in our patients.

Acoustic Stimulation↗