Positional periodic alternating vertical nystagmus with PCA-Tr antibodies in Hodgkin lymphoma.
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ABSTRACT:
SUBMITTER: Eggers SD
PROVIDER: S-EPMC3467647 | biostudies-literature | 2012 May
REPOSITORIES: biostudies-literature
Publications
Positional periodic alternating vertical nystagmus with PCA-Tr antibodies in Hodgkin lymphoma.
Eggers S D Z SD Pittock S J SJ Shepard N T NT Habermann T M TM Neff B A BA Klebig R R RR
Neurology 20120516 22
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Project description: Not available
| S-EPMC9175413 | biostudies-literature
Project description:Acquired periodic alternating nystagmus (PAN) describes a horizontal jerk nystagmus that reverses its direction with a predictable cycle, and is thought to arise from lesions involving the brainstem and cerebellum. We report a 20-year-old patient with PAN who presented with an acute vertiginous episode and developed an involuntary head movement that initially masked the PAN. The involuntary head movements were abolished with a subtherapeutic dose of botulinum toxin to the neck muscles. We propose that the head movements initially developed as a compensatory movement to the nystagmus, to maintain visual fixation in the presence of the underlying nystagmus, and became an entrained involuntary behavior. This case highlights the importance of disambiguating psychogenic from organic pathology as this may have clinical therapeutic implications, in this case resolution of the most disabling symptom which was her head oscillations, leading to improved day-to-day function despite PAN.
| S-EPMC5960698 | biostudies-literature
Project description:Periodic alternating nystagmus consists of involuntary oscillations of the eyes with cyclical changes of nystagmus direction. It can occur during infancy (e.g. idiopathic infantile periodic alternating nystagmus) or later in life. Acquired forms are often associated with cerebellar dysfunction arising due to instability of the optokinetic-vestibular systems. Idiopathic infantile periodic alternating nystagmus can be familial or occur in isolation; however, very little is known about the clinical characteristics, genetic aetiology and neural substrates involved. Five loci (NYS1-5) have been identified for idiopathic infantile nystagmus; three are autosomal (NYS2, NYS3 and NYS4) and two are X-chromosomal (NYS1 and NYS5). We previously identified the FRMD7 gene on chromosome Xq26 (NYS1 locus); mutations of FRMD7 are causative of idiopathic infantile nystagmus influencing neuronal outgrowth and development. It is unclear whether the periodic alternating nystagmus phenotype is linked to NYS1, NYS5 (Xp11.4-p11.3) or a separate locus. From a cohort of 31 X-linked families and 14 singletons (70 patients) with idiopathic infantile nystagmus we identified 10 families and one singleton (21 patients) with periodic alternating nystagmus of which we describe clinical phenotype, genetic aetiology and neural substrates involved. Periodic alternating nystagmus was not detected clinically but only on eye movement recordings. The cycle duration varied from 90 to 280?s. Optokinetic reflex was not detectable horizontally. Mutations of the FRMD7 gene were found in all 10 families and the singleton (including three novel mutations). Periodic alternating nystagmus was predominantly associated with missense mutations within the FERM domain. There was significant sibship clustering of the phenotype although in some families not all affected members had periodic alternating nystagmus. In situ hybridization studies during mid-late human embryonic stages in normal tissue showed restricted FRMD7 expression in neuronal tissue with strong hybridization signals within the afferent arms of the vestibulo-ocular reflex consisting of the otic vesicle, cranial nerve VIII and vestibular ganglia. Similarly within the afferent arm of the optokinetic reflex we showed expression in the developing neural retina and ventricular zone of the optic stalk. Strong FRMD7 expression was seen in rhombomeres 1 to 4, which give rise to the cerebellum and the common integrator site for both these reflexes (vestibular nuclei). Based on the expression and phenotypic data, we hypothesize that periodic alternating nystagmus arises from instability of the optokinetic-vestibular systems. This study shows for the first time that mutations in FRMD7 can cause idiopathic infantile periodic alternating nystagmus and may affect neuronal circuits that have been implicated in acquired forms.
| S-EPMC4125620 | biostudies-literature
Project description:A woman, age 44, with a positive anti-YO paraneoplastic cerebellar syndrome and normal imaging developed an ocular motor disorder including periodic alternating nystagmus (PAN), gaze-evoked nystagmus (GEN) and rebound nystagmus (RN). During fixation there was typical PAN but changes in gaze position evoked complex, time-varying oscillations of GEN and RN. To unravel the pathophysiology of this unusual pattern of nystagmus, we developed a mathematical model of normal function of the circuits mediating the vestibular-ocular reflex and gaze-holding including their adaptive mechanisms. Simulations showed that all the findings of our patient could be explained by two, small, isolated changes in cerebellar circuits: reducing the time constant of the gaze-holding integrator, producing GEN and RN, and increasing the gain of the vestibular velocity-storage positive feedback loop, producing PAN. We conclude that the gaze- and time-varying pattern of nystagmus in our patient can be accounted for by superposition of one model that produces typical PAN and another model that produces typical GEN and RN, without requiring a new oscillator in the gaze-holding system or a more complex, nonlinear interaction between the two models. This analysis suggest a strategy for uncovering gaze-evoked and rebound nystagmus in the setting of a time-varying nystagmus such as PAN. Our results are also consistent with current ideas of compartmentalization of cerebellar functions for the control of the vestibular velocity-storage mechanism (nodulus and ventral uvula) and for holding horizontal gaze steady (the flocculus and tonsil).
| S-EPMC9169448 | biostudies-literature
Project description: Not available
| S-EPMC4277665 | biostudies-literature
Project description:BackgroundPseudo-spontaneous nystagmus has been reported in patients with direction-changing positional nystagmus (DCPN). Recently, the concept of a "light cupula" has been introduced as a pathophysiology that can exhibit persistent geotropic DCPN. Patients with persistent DCPN could have different characteristics of nystagmus. Therefore, we investigated the pseudo-spontaneous nystagmus in patients with transient (canalolithiasis) and persistent (belong to light cupula theory) geotropic DCPN.MethodsIn this study, prospectively, 49 patients with persistent geotropic DCPN and 67 patients with transient geotropic DCPN were enrolled. We compared the incidence of pseudo-spontaneous nystagmus between persistent and transient DCPN patients and characteristics of pseudo-spontaneous nystagmus and positional nystagmus by the head roll test in these patients. A prospective study was conducted at a dizziness clinic.ResultsPatients with persistent geotropic DCPN exhibited significantly higher incidence of pseudo-spontaneous nystagmus than patients with transient geotropic DCPN. Patients with transient DCPN showed a significantly higher mean SPV value during the head roll test than patients with persistent DCPN. All patients exhibiting pseudo-spontaneous nystagmus in patients with persistent DCPN had a null plane, and all patients had nystagmus beats to the opposite side of the null plane or the lesion side.ConclusionOur results support the possibility that the mechanism between persistent and transient geotropic DCPN may be different. However, more studies are needed on the pathogenesis and mechanism of the two diseases, including the occurrence of pseudo-spontaneous nystagmus in the disease entity.
| S-EPMC5912748 | biostudies-literature
Project description:ObjectiveTo provide a systematic review of the clinical and radiological features of lesion-induced central positional nystagmus (CPN) and identify salient characteristics that differentiate central from peripheral positional nystagmus (PN).MethodsSystematic literature search according to the preferred reporting items for systematic reviews and meta-analysis.ResultsA total of 82 patients from 28 studies met the participants intervention, comparison, outcomes, and study designs criteria for inclusion. An atypical direction of nystagmus for the stimulated canal was reported in 97.5% patients during Dix-Hallpike (D-H) and 54.5% upon supine roll testing. Five types of CPNs were identified during positional testing: positional horizontal nystagmus (pHN) (36.8%), positional downbeating nystagmus (pDBN) (29.2%), positional torsional nystagmus (pTN) (2.1%), positional upbeating nystagmus (pUBN) (2.1%), and a combination of the four profiles (29.9%). CPN was paroxysmal (<60 s) in 85% patients on straight head hanging (SHH), 63.9% on D-H, and 37.5% on supine roll, and had a latency <3 s upon positioning in 94.7% patients in which it was reported. Concurrent vertigo was reportedly present in 63.4% patients and 48.8% demonstrated other neurological signs. Radiologically, in 74.4%, there was mention of cerebellar involvement, isolated brainstem involvement in 8.5%, and 14.6% involved the fourth ventricle.ConclusionCurrently, there is a lack of robust data on the clinical and radiological characteristics of CPN highlighting the need for better phenotyping of CPN to help differentiate this entity from peripheral causes of PN. With increased awareness of CPN, particularly in the acute setting, we may see a change in the estimated prevalence of CPN and improved clinical markers to promptly identify the frequently sinister underlying causes.
| S-EPMC5397512 | biostudies-literature
Project description:The association between acoustic neuroma and positional vertigo with paroxysmal positional nystagmus is relatively rare, but, when present, it certainly represents a challenge for the otoneurologist. There are few reports in the literature on this particular issue, and some questions are still unanswered, particularly regarding the characteristics of positional nystagmus that may distinguish between a true benign paroxysmal vertigo and a positional nystagmus associated with the tumor. We present the videonystagmographic patterns of seven patients with acoustic tumor who had paroxysmal positional nystagmus and analyzed its features. A concomitant true benign paroxysmal positional vertigo may be present during the follow-up of a non-treated patient, as the paroxysmal positional vertigo may be the first symptom of the tumor, and it may show characteristics that are very similar to a posterior semicircular canal canalolithiasis or a horizontal canal "heavy or light cupula". The possible mechanisms are discussed.
| S-EPMC10136250 | biostudies-literature
Project description:BackgroundSome individuals present positional end-point nystagmus when the Dix-Hallpike tests are performed on them if they unintentionally look towards the examined ear.ObjectiveTo describe the prevalence and the characteristics of end-point nystagmus during positional testing in healthy subjects.MethodsSixty healthy subjects were included. Eight positional tests were performed on them, two Pagnini-McClure tests and six Dix-Hallpike tests, while keeping the eyes in different positions; one on each side. Two independent observers filled in a questionnaire about the presence of positional nystagmus, its latency, duration, direction, and sense.Results and conclusionsOf the subjects, 65% showed positional end-point nystagmus. This nystagmus had a short latency and last for as long as the head is maintained in the test position. They can show any direction or sense, but the most common are torsional clockwise in left tests and anticlockwise in right tests. Unlike BPPV, this nystagmus did not appear with the eyes in the straight-ahead position, it is asymptomatic, and its intensity does not decline.
| S-EPMC9821112 | biostudies-literature
Project description:There have been no reports regarding nystagmus observed immediately after the end of an acute vertiginous attack in patients with Meniere's disease. The aim of this study was to demonstrate positional direction-changing nystagmus in patients with Meniere's disease, and to discuss the mechanism that underlies this nystagmus. Video-nystagmography was recorded in two patients with definite Meniere's disease, who showed positional direction-changing nystagmus during the period immediately after a vertigo attack. In one patient, video-nystagmographic recording was conducted 5 h after an episode of vertigo attack, and it showed very weak, persistent positional geotropic direction-changing nystagmus. In the other patient, video-nystagmographic recording was conducted 23 h after an episode of vertigo attack, and it showed very weak, persistent positional apogeotropic direction-changing nystagmus. Our patients exhibited very weak, persistent positional direction-changing nystagmus, which was geotropic in one and apogeotropic in the other. This type of positional nystagmus has been reported in other inner ear disorders and it cannot be clearly explained by typical benign paroxysmal positional vertigo. The change in chemical composition and/or electrolyte concentration of the inner ear fluid, although still unclear, may underlie the production of this characteristic nystagmus in these patients.
| S-EPMC7931113 | biostudies-literature