Anticonvulsant-induced dyskinesias: a comparison with dyskinesias induced by neuroleptics.
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Anticonvulsants cause dyskinesias more commonly than has been appreciated. Diphenylhydantoin (DPH), carbamazepine, primidone, and phenobarbitone may cause asterixis. DPH, but not other anticonvulsants, may cause orofacial dyskinesias, limb chorea, and dystonia in intoxicated patients. These dyskinesias are similar to those caused by neuroleptic drugs and may be related to dopamine antagonistic properties possessed by DPH. (+info)
Acute cerebellar ataxia with human parvovirus B19 infection.
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A 2 year old boy developed acute cerebellar ataxia in association with erythema infectiosum. During the disease, genomic DNA and antibodies against human parvovirus B19 were detected in serum but not in cerebrospinal fluid. Parvovirus B19 associated acute cerebellar ataxia might occur due to transient vascular reaction in the cerebellum during infection. (+info)
Dissociated vertical deviation: an exaggerated normal eye movement used to damp cyclovertical latent nystagmus.
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PURPOSE: Dissociated vertical deviation (DVD) has eluded explanation for more than a century. The purpose of this study has been to elucidate the etiology and mechanism of DVD. METHODS: Eye movement recordings of six young adults with DVD were made with dual-coil scleral search coils under various conditions of fixation, illumination, and head tilt. Horizontal, vertical, and torsional eye movements were recorded for both eyes simultaneously. Analyses of the simultaneous vertical and torsional movements occurring during the DVD response were used to separate and identify the component vergence and version eye movements involved. RESULTS: Typically, both horizontal and cyclovertical latent nystagmus developed upon occlusion of either eye. A cycloversion then occurred, with the fixing eye intorting and tending to depress, the covered eye extorting and elevating. Simultaneously, upward versions occurred for the maintenance of fixation, consisting variously of saccades and smooth eye movements, leading to further elevation of the eye behind the cover. The cyclovertical component of the latent nystagmus became partially damped as the DVD developed. CONCLUSIONS: In patients with an early-onset defect of binocular function, the occlusion of one eye, or even concentration on fixing with one eye, produces unbalanced input to the vestibular system. This results in latent nystagmus, sometimes seen only with magnification. The cyclovertical component of the latent nystagmus, when present, is similar to normal vestibular nystagmus induced by dynamic head tilting about an oblique axis. Such vestibular nystagmus characteristically produces a hyperdeviation of the eyes. In the case of cyclovertical latent nystagmus, the analogous hyperdeviation will persist unless corrected by a vertical vergence. A normal, oblique-muscle-mediated, cycloversion/vertical vergence is called into play. This occurs in the proper direction to correct the hyperdeviation, but it occurs in an exaggerated form in the absence of binocular vision, probably as a learned response. The cycloversion/vertical vergence helps damp the cyclovertical nystagmus (a cyclovertical "nystagmus block-age" phenomenon), aiding vision in the fixing eye. But this mechanism also produces unavoidable and undesirable elevation and extortion of the fellow eye, which we call DVD. (+info)
Vestibular perception of angular velocity in normal subjects and in patients with congenital nystagmus.
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A technique is described for the assessment of vestibular sensation. The two main goals of the study were (i) to compare the perception of angular velocity with the eye velocity output of the vestibulo-ocular reflex and (ii) to study vestibular function in patients with congenital nystagmus; this was needed since most previous studies, based on eye movement recordings, have been inconclusive. Subjects indicated their perceived angular velocity by turning by hand a wheel connected to a tachometer. The vestibular stimuli used consisted of sudden deceleration from rotation at a constant horizontal velocity of 90 degrees /s ('stopping' responses). Eye movements were recorded simultaneously with electro-oculography. In normal subjects the perceived angular velocity decayed from the moment of deceleration in an exponential fashion. The mean time constant of sensation decay was approximately 16 s. Eye movement velocity decayed with a similar exponential trajectory (time constant 16 s). Congenital nystagmus patients showed markedly shortened vestibular sensation (mean time constant 7 s). The following conclusions can be drawn: (i) the similarity of the eye velocity and perceptual responses suggests that these two systems receive a vestibular signal which has been similarly processed; (ii) the time constant of the responses indicates that this vestibular signal probably originates in the same brainstem 'velocity storage' integrator; (iii) the technique described is useful for clinical assessment of vestibular function, particularly in patients with ocular motility disorders; (iv) patients with congenital nystagmus have short vestibular time constants, which is probably due to changes induced in velocity storage processing by the persistent retinal image motion present in these patients. (+info)
Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration.
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PURPOSE: To characterize the disease expression of an autosomal recessive human retinal degeneration associated with a mutation in TULP1 (tubby-like protein 1), a gene with currently unknown function. METHODS: Homozygotes and heterozygotes from an extended Dominican kindred with a TULP1 splice-site gene mutation (IVS14+1,G-->A) were studied clinically and with visual function tests. Sequence analysis of TULP1 was also performed in unrelated patients with severe retinal degeneration from a North American clinic population. RESULTS: Homozygotes had nystagmus, visual acuity of 20/200 or worse, color vision disturbances, bull's eye maculopathy, and peripheral pigmentary retinopathy. Younger patients had a relatively wide extent of kinetic visual fields; older patients had only peripheral islands. No rod function was measurable by psychophysics in any of the patients; markedly reduced cone function was detectable across the visual field of younger patients and in the remaining peripheral islands of older patients. Rod and cone electroretinograms (ERGs) were not detectable using standard methods; microvolt-level cone ERGs were present in some patients. Heterozygotes had normal visual function. No putative pathogenic sequence changes in TULP1 were observed in North American patients with comparably severe retinal phenotypes, mainly in the diagnostic category of Leber congenital amaurosis. CONCLUSIONS: This TULP1 splice-site mutation in homozygotes causes early-onset, severe retinal degeneration involving macular and peripheral cones and rods. The constellation of phenotypic findings suggests that the TULP1 gene product is critically important for normal photoreceptor function and may play a role in retinal development. (+info)
Partial midline fusion of the cerebellar hemispheres with vertical folia: a new cerebellar malformation?
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MR imaging depicted vertically oriented folia instead of the normal horizontal folial pattern, hypoplastic cerebellar vermis, fusion of the inferior posterior cerebellum, and probable polymicrogyria in the superior cerebellar hemispheres in a child with hypotonia, nystagmus, ataxia, and psychomotor retardation. We propose that this newly discovered cerebellar malformation be added to the list of malformations associated with aplasia or hypoplasia of the cerebellar vermis, such as Dandy-Walker malformation, Joubert syndrome, tectocerebellar dysraphia, and rhombencephalosynapsis. (+info)
Stereothresholds in persons wtih congenital nystagmus and in normal observers during comparable retinal image motion.
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Despite rapid oscillations of the eyes, visual acuity is close to normal in many observers with congenital nystagmus (CN). This study investigated whether binocular hyperacuity thresholds are also close to normal in observers with CN. To do so, we assessed stereothresholds for horizontally and vertically separated line targets in three normal observers and six observers with idiopathic horizontal CN. Stereothresholds in normal observers are better than in the observers with CN, especially for horizontally-separated targets and very small inter-line separations. Stereothresholds remain better in normal observers than in the observers with CN, even in the presence of conjugate retinal image motion simulating that in jerk nystagmus. However, when the simulated CN wave form also includes disconjugate position variability of the foveation periods, normal observers' stereothresholds become similar to those of approximately half of the observers with CN. We conclude that stereothresholds in observers with CN are degraded by the more-or-less constant motion of the retinal image, by excessive vergence instability and, in some observers, by a neural sensory deficit. (+info)
The incidence and waveform characteristics of periodic alternating nystagmus in congenital nystagmus.
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PURPOSE: To investigate the incidence and waveform characteristics of periodic alternating nystagmus, (PAN) in congenital nystagmus (CN). METHODS: In a prospective study, 18 patients with CN without associated sensory defects agreed to undergo eye movement documentation using binocular infrared oculography. Two of the 18 had a diagnosis of suspected PAN before entering the study. The patients sat in a dimly lit room and viewed an LED (4 min in diameter) located in the primary position, at a distance of 100 cm. During an 8-minute recording, patients were read a story of neutral interest to hold attention at a constant level. PAN was defined as a left-beating nystagmus, a transition phase, a right-beating nystagmus, and a final transition phase; the sequence was then repeated. RESULTS: Seven of the 18 patients had PAN (median cycle: 223 seconds, range 180-307 seconds). The periodicity of the cycles for each adult patient was regular, although the phases within a cycle were often asymmetric. Six of the seven patients had an anomalous head posture (AHP), and in five the AHP was in only one direction. Except for one patient, the PAN waveforms had an increasing slow-phase velocity in at least one phase of the cycle; in the other phase they were linear. CONCLUSIONS: The occurrence of PAN in CN is not as rare as previously thought and can be missed because of the long cycles and the use of only one AHP. The AHP was dependent on, and could be predicted from, the waveforms containing the longest foveation times. Although the waveforms and foveation times may differ among the phases of the PAN cycle, the periodicity of the cycle was usually regular and therefore predictable. Identification of PAN is essential in cases in which surgical treatment is considered for correction of AHPs. (+info)