Multiple sclerosis (MS) is an immune-mediated inflammatory disease characterized by demyelination of the central nervous system. Below we review the clinical characteristics of the acquired pendular nystagmus associated with each etiology, and outline the proposed pathophysiological mechanism for each. This chapter is dedicated to the workup of nystagmus with onset in childhood. This is especially important in the maintenance of gaze, which involves tonic contraction of the extraocular muscles to hold the eye steady. Neurology 70(14): 1217-1218. About one third remained stable after treatment, third had radiographic response, while third continued to progress. There was an attenuation of oscillation amplitude with eye closure, and they did not reset after a visually guided saccade. [6, 13, 16], Pharmacological tests further tested the mechanism of pathogenesis and explored possible treatment options for acquired pendular nystagmus in MS. Asymmetrical nystagmus can also be seen when the vergence system is involved Congenital nystagmus tends to be divided into two groups, children with abnormal vision and children with normal vision. Simulated membrane potentials (black), eye oscillations (magenta). treatment. [57] Progressive supranuclear palsy was once reported to cause acquired pendular nystagmus and inferior olive hypertrophy. Zee DS, Yee RD, Cogan DG, Robinson DA, Engel WK. Phenytoins mechanism of action is that it blocks sodium conductance across cell membranes, thus stabilizing neuronal membranes and reducing the velocity of signal conductance. Furthermore, when the patients head was fixed, the amplitude of both the ocular and head oscillations decreased, suggesting that the ocular movements are linked to the head movement. Other sites where lesions have been found include the dorsal pontine tegmentum in the brainstem and the anterolateral pons and midbrain. In childhood most cases are benign forms of nystagmus: idiopathic infantile, ocular or latent nystagmus. [30] The pathophysiology of the nystagmus in this patient could be due to dysfunction of the neural integrator and internal feedback loops due to dysmyelination, similar to the proposed pathophysiology for MS. Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Pendular nystagmus due to acquired etiology, the focus of current review, is described by its frequency, given in Hertz, and its amplitude, given in degrees. Red traces represent the right eye positions while grey lines are left. Proceedings of the National Academy of Sciences of the United States of America. age, or acquired later in life. Mohamed W, Neil E, Kupsky WJ, Juhasz C, Mittal S, Santhakumar S. Isolated intracranial Whipples disease--report of a rare case and review of the literature. Additionally, this predicts that movements that do not require the neural integrator, such as saccade, will be more conjugate than movements that require the neural integrator, such as the maintenance of steady gaze. [41] Adult-onset forms, on the other hand, usually display ataxia and/or spasticity without cognitive impairment or optic atrophy.[42]. It can also occur when there is damage to oculomotor output circuitry, such in persons with brainstem hemmorages again, or specific disorders such as internuclear ophthalmoplegia, or oculomotor nuclei lesions. When there is a net positive feedback in a loop, which can be attained in a negative feedback loop with an 180 deg phase lag, the loop can break into oscillation. The red and grey traces are not symmetric; the oscillations have a coarse and irregular waveform. Nystagmus represents uncontrolled, repetitive movements of the eyes. We have mainly seen DN after large cerebellar strokes, typically affecting the deep cerebellar nuclei. eye position or velocity. European journal of human genetics : EJHG. The eyes are "dissociated". [37] Neuro-opthalmologic findings may include pendular nystagmus, ocular flutter, opsoclonus, optic neuropathy, and internuclear ophthalmoplegia. We propose a dual mechanism model to explain the coarse and irregular features of the pendular nystagmus in OPT. Diagnostic guidelines in central nervous system Whipples disease. the contents by NLM or the National Institutes of Health. To further support this point, Kaski et al studied eye and head movements in 2 patients with PD. When this happens, both fast and slow phases are asymmetrical. Oculopalatal tremor explained by a model of inferior olivary hypertrophy and cerebellar plasticity. Trobe JD, Sharpe JA, Hirsh DK, Gebarski SS. [67, 68] It is proposed that phenytoin-induced decrease in conduction velocity had increased signal delay in the feedback pathway between the cerebellum and the neural integrator. Once present the nystagmus did not resolve and continued till the treatment was initiated. In spite of these sporadic reports of success, we have not had much success ourselves. Many patterns of nystagmus have been characterized. Herishanu Y, Louzoun Z. Trihexyphenidyl treatment of vertical pendular nystagmus. Treatment with gabapentin or memantine, putative blockers of alpha-2-delta calcium channels and glutamate receptors respectively, reduces acquired pendular nystagmus amplitude in MS patients (Figure 2B,C,E,F). Trobe JD, Sharpe JA, Hirsch DK, Gebarski SS. FRMD7-related infantile nystagmus (FIN) is characterized by either the onset of horizontal, conjugate, gaze-dependent nystagmus in the first six months of life or periodic alternating nystagmus (with cyclical changes of nystagmus direction) of infantile onset. Careers, Unable to load your collection due to an error. Kang, S. and A. G. Shaikh (2017). In children with impaired or abnormal vision, the eyes are unable to send back to the brain a clear message of what they are seeing. Dissociated pendular nystagmus (i.e. The nystagmus may be intermittent or continuous. Common side effects include encephalopathy, chorea, athetosis, dyskinesia, ataxia, jerk nystagmus, and opsoclonus.[64]. [4547] Central nervous system sarcoidosis rarely involves the ocular motor system. Quinine or tonic water blocks connexin gap junctions, and could be used as putative therapy of ocular palatal tremor. Congenital Nystagmus (follow link). Cockayne syndrome: review of 140 cases. This is probably because most pendular nystagmus is due to lesions in the central tegmental tract, which is part of a fairly long loop. Vertical pendular nystagmus associated with oculopalatal myoclonus syndome. Some individuals use plastic bags to inhale paint thinner (huffing). Many etiologies recognized to cause acquired pendular nystagmus are outlined in Table 1. We think that the association with the cerebellum is more likely to be accurate. Pendular nystagmus is a sinusoidal oscillation. Nance MA, Berry SA. Robinson DA. that frequently appears after pontine hemorrhage. Gerard A, Sarrot-Reynauld F, Liozon E, Cathebras P, Besson G, Robin C, et al. prisms. Binocular vision and color vision are normal and visual acuity is typically better than 6/12. We find this theory very hard to follow, and in general prefer the neural syncytium theory. This can, however, be not only congenital but acquired as well. Horizontal acquired pendular nystagmus measured from one patient with MS. (AC) Binocular eye positions are plotted against time. This seems a little more likely than the first idea. Among the leukodystrophies, PMD can be largely distinguished by its binocular Whipples disease classically presents with abdominal pain, diarrhea, weight loss, and arthritic joint pain. No other neurologic signs are present, and the condition is nonprogressive and of no clinical significance. The topic of acquired pendular nystagmus was recently reviewed (Kang and Shaikh, 2017), and this page was updated to reflect content from that article. In this variant, among six OPT patients two had focal, three had multifocal, and one had generalized dystonia. Depending on the extent of clinical presentation, it is reasonable to consider baclofen in addition to gabapentine and/or memantine for the therapeutic intervention. The clip below shows her jerk horizontal nystagmus (top), and her pendular vertical nystagmus (bottom). Author Janet C Rucker 1 Affiliation 1 Department of Neurology, Case Western Reserve School of Medicine, Hanna House 5th Floor, 11100 Euclid Avenue, Cleveland, OH 44106, USA. One case we encountered has no stereopsis, has a very weak torsional pendular that increases in the light compared to the dark, and seems to experience relatively little impact. C. Hain, MD Page last modified: Journal of neurology, neurosurgery, and psychiatry. The bacterium is ubiquitous in the environment, but not all that encounter the pathogen become symptomatic. Neurology 2000:55:1089-1096, Keane JR. yridines. Kaski D, Saifee TA, Buckwell D, Bronstein AM. Hormes JT, Filley CM, Rosenberg NL. Neurology 1986:36:82-84. Then we will discuss etiologies of acquired pendular nystagmus, pertinent pathophysiology and therapeutic strategies. Most albinos (think of white cats for example) have congenital nystagmus of some type, with pendular being the mildest variety. Pendular nystagmus is characterized by quasi-sinusoidal oscillations of the eyes disrupting the visual acuity and causing oscillopsia. Cannon SC, Robinson DA. Joseph FG, Scolding NJ. This tremor was reported in all 112 patients in the study, hence it was deemed pervasive, and it was suggested that further investigations could lead to use of this ocular tremor as an early diagnostic marker for PD. Three out of four patients who had cervical dystonia also had head tremor, and two patients had speech involvement. This appears as though the eyes are moving in relation to the head, although in reality the eyes are not moving in relation to space. Whipples disease is a rare infection of the small intestine caused by the bacterium T. whipplei. Xiong L, Matthes JD, Li J, Jinkins JR. MR imaging of spray heads: toluene abuse via aerosol paint inhalation. . Pendular nystagmus is generally due to either loss of inhibitory feedback control on a neural circuit, or increased delay in a feedback circuit, that then breaks into spontaneous oscillation. Although further studies may be conducted to reevaluate the characteristics of head tremor in PD and their possible link to this apparent ocular tremor, the findings of Kaski et al along with the history of clinical observations of PD do not support that this is a newly identified ocular tremor pervasive in PD patients. Nystagmus can be jerk (named for fast phase) or pendular, variable amplitude and frequency, and can be worsened or improved . Peroxisomal disorders include a range of autosomal recessive mutations that affect peroxisome function. [35, 36] These deficits may result in ataxia, tremor, anosmia, sensorineural hearing loss, dementia, and seizures. Normal gaze-holding requires the convergence of an accurate neural command, incorporation of visual, proprioceptive, and cerebellar feedback, and their implementation at the orbital muscles. In addition there was slowing of vertical saccades suggesting supranuclear vertical gaze palsy. The nystagmus movements may be pendular or jerk in nature. So most of the time, this is probably missed. [53] Superficial siderosis was reported in five patients who had ocular palatal tremor along with progressive ataxia. A magnetic search-coil study. The site is secure. For example, someone with a basilar artery occlusion. The pathophysiology of Whipples disease as far as its neurological effects is unclear. Subsequent discussion of the pathophysiology of individual forms of pendular nystagmus speculates on mechanisms of the underlying disease while providing insights into pharmacotherapy of nystagmus. [31, 32] Pendular nystagmus has been well-documented in Zellweger spectrum disorders, a subset of inherited peroxisomal disorders that typically present in newborns or early childhood and can range from mild to severe phenotype.[33]. disorder, X-linked recessive in children and autosomal dominant in adults. 492-494. Involuntary, rhythmic eye movements are characteristic, as they are in acquired nystagmus. (Kang and Shaikh, 2017). Congenital nystagmus accounts for almost 80% of the cases and can be seen during 6-12 weeks of life of the baby. Archives of ophthalmology (Chicago, Ill : 1960). Bethesda, MD 20894, Web Policies Shaikh AG, Hong S, Liao K, Tian J, Solomon D, Zee DS, et al. The waveform of pendular nystagmus may occur in any direction; it can be torsional, horizontal, vertical, or a combination of these, resulting in circular, oblique, or elliptical trajectories. Ocular motor abnormalities in hereditary cerebellar ataxia. Case study of an epileptic who received intravenous fosphenytoin for a breakthrough seizure revealed transient pendular nystagmus which began 45 minutes after administration of the fosphenytoin bolus and lasted approximately 12 hours and then spontaneously resolved. Gresty, M. A., et al. The ocular palatal tremor can be successfully treated with gabapentin, memantine, or even baclofen. The disease usually presents in early childhood with symptoms including dwarfism, mental retardation, microcephaly, and a sunken eye appearance. and base-out prisms. It is also distinguished from most types of congenital nystagmus, where the waveform commonly has both slow and fast phases. 1 The nystagmus characteristics and waveform of CIN and SDN may not be distinguishable from each other. Eye movement abnormalities in a patient with Zellweger spectrum disorder. (A) Constant velocity drift of the eyes, with corrective quick phases, typical of peripheral or central vestibular disease. They offer a second theory that there is too much positive feedback in the brainstem neural integrator that converts velocity into position signals. two pendular axes at the same time, so the eye traces out an ellipse). We do not know why some develop vertical nystagmus and others torsional nystagmus. Huygen PL, Verhagen WI, Renier WO. The delay in conduction is directly proportional to the baseline rate of spontaneous discharge, where a higher baseline frequency of discharge results in greater conduction delay. There are two general methods, a delay in a feedback loop, or a "lag" which translates into a delay that changes with frequency. The eye movement recordings showed a regular sinusoidal pattern with a mean frequency of 4.3 Hz and the presence of a small vertical component. Adaptive gain control of vestibuloocular reflex by the cerebellum. Focal lesions have been observed on MRI in patients with central effects from Whipples disease, suggesting that the infection may anatomically disrupt pathways in the brain important for regulation of orbital and facial muscles. [55] Pure progressive ataxia and palatal tremor along with pendular nystagmus was noted in a patient who was heterozygote for a known pathogenic (W748S) and novel POLG variant (I1185N). Pendular nystagmus refers to the waveform of an involuntary eye movement. Dissociated nystagmus is hard to record as it requires binocular cameras and high resolution. IN can be idiopathic or associated to albinism, retinal disease, low vision, or visual deprivation in early life, for example due to congenital cataracts, optic nerve hypoplasia, and retinal dystrophies, or it can be part of neurological syndromes and neurologic diseases. (from https://www.electronics-tutorials.ws/systems/negative-feedback.html). This is a general characteristic of feedback control circuits with delays -- they are vulnerable to increases in gain or increased delay. Neurology 1986:36:86-89. If the eye positions are tracked in real time, the waveform of these oscillations may be sinusoidal, as in pendular nystagmus, or assume the shape of a saw tooth, as in jerk nystagmus. Ocular findings include enophthalmos, hyperopia, poor pupillary dilation, and retinal dystrophy. It is highly lipophilic, adhering readily to myelin and cell membranes.
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