Genomes and Genes
Summary: Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)
- Marcelli V, Furia T, Marciano E. Vestibular pathways involvement in children with migraine: a neuro-otological study. Headache. 2010;50:71-6 pubmed publisher..This could demonstrate a subclinical involvement of vestibular pathways without clinical presentation. The subjects are still being followed up to evaluate the evolution of symptomatology. ..
- Blitshteyn S, Hentschel K, Czervionke L, Eidelman B. Transient vertical diplopia and nystagmus associated with acute thalamic infarction. Clin Imaging. 2006;30:54-6 pubmed..DWI MRI can detect thalamic infarction as early as 1 h after its clinical manifestations...
- Vulliemoz S, Vanini G, Truffert A, Chizzolini C, Seeck M. Epilepsy and cerebellar ataxia associated with anti-glutamic acid decarboxylase antibodies. J Neurol Neurosurg Psychiatry. 2007;78:187-9 pubmed..Combined treatment with immunosuppressants and gammahydroxybutyric acidergic agents may be highly effective. ..
- Sprenger A, Zils E, Rambold H, Sander T, Helmchen C. Effect of 3,4-diaminopyridine on the postural control in patients with downbeat nystagmus. Ann N Y Acad Sci. 2005;1039:395-403 pubmed..It was concluded that 3,4-DAP may particularly influence the postural performance in patients with downbeat nystagmus. ..
- Naganuma M, Inatomi Y, Yonehara T, Fujioka S, Hashimoto Y, Hirano T, et al. Rotational vertigo associated with parietal cortical infarction. J Neurol Sci. 2006;246:159-61 pubmed..We suggest that this patient's vertigo was due to her parietal cortical infarction. ..
- Katata Y, Uematsu M, Sato H, Suzuki S, Nakayama T, Kubota Y, et al. Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan. Brain Dev. 2016;38:341-5 pubmed publisher..Whole-exome sequencing revealed a homozygous CLN8 mutation: c.620T>G (p.L207R). His parents were both heterozygous for this mutation. To our knowledge, this is the first report of a CLN8 mutation in late infantile NCL in Japan. ..
- Tychsen L, Richards M, Wong A, Foeller P, Bradley D, Burkhalter A. The neural mechanism for Latent (fusion maldevelopment) nystagmus. J Neuroophthalmol. 2010;30:276-83 pubmed publisher..fusion maldevelopment--in the form of strabismus and amblyopia--is common, LN is a prevalent form of pathologic nystagmus encountered in clinical practice. It originates as an afferent visual pathway disorder...
- Baker S, Morillo C, Vernino S. Autoimmune autonomic ganglionopathy with late-onset encephalopathy. Auton Neurosci. 2009;146:29-32 pubmed publisher..It is tempting to speculate that CNS alpha4 or alpha7 antibodies may have precipitated the treatment-responsive encephalopathy...
- Katoh M, Aida T, Imamura H, Aoki T, Yoshino M, Kashiwazaki D, et al. Calcified vestibular schwannoma in the cerebellopontine angle. J Clin Neurosci. 2007;14:1207-9 pubmed..The pathological diagnosis was schwannoma. For a calcified mass in the cerebellopontine angle, vestibular schwannoma should be considered in the differential diagnosis to plan appropriate treatment strategies. ..
- Saitoh M, Kubota M, Kimura I, Mizuguchi M, Igarashi T. A case of Panayiotopoulos syndrome showing an atypical course. Seizure. 2006;15:643-8 pubmed..The unique clinical evolution in our case may be associated with the unusual frontal localization of dipoles detected by MEG. ..
- Tilikete C, Vighetto A, Trouillas P, Honnorat J. Anti-GAD antibodies and periodic alternating nystagmus. Arch Neurol. 2005;62:1300-3 pubmed..The presence of PAN and the response to baclofen provide a unique opportunity to suggest a direct role of GAD-Ab in cerebellar dysfunction in this patient. ..
- Yabe I, Kitagawa M, Suzuki Y, Fujiwara K, Wada T, Tsubuku T, et al. Downbeat positioning nystagmus is a common clinical feature despite variable phenotypes in an FHM1 family. J Neurol. 2008;255:1541-4 pubmed publisher..Although clinical features associated with the T666M CACNA1A mutation are highly variable, downbeat positioning nystagmus may be an important clinical feature of this disease. ..
- Ribeiro I, Vale P, Tenedorio P, Rodrigues P, Bilhoto M, Pereira H. Ocular manifestations in fetal alcohol syndrome. Eur J Ophthalmol. 2007;17:104-9 pubmed..To report the prevalence of ocular abnormalities in a group of Portuguese children with a complete fetal alcohol syndrome (FAS)...
- Karatas E, Onat A, Durucu C, Baglam T, Kanlikama M, Altunoren O, et al. Audiovestibular disturbance in patients with systemic lupus erythematosus. Otolaryngol Head Neck Surg. 2007;136:82-6 pubmed..Audiologic research should be directed toward routine, pure tone audiometry, and ENG assessment for patients with SLE to enable crucial treatment. ..
- Hertle R, Yang D, Kelly K, Hill V, Atkin J, Seward A. X-linked infantile periodic alternating nystagmus. Ophthalmic Genet. 2005;26:77-84 pubmed
- Venugopal N, Ramakrishnan R, Saravanan -, Eapen P. Tonic eye deviation due to nonketotic hyperglycaemia induced focal seizures: case report. Indian J Ophthalmol. 2005;53:200-1 pubmed..We report a case of intermittent tonic conjugate eye deviation due to nonketotic hyperglycaemia induced focal seizure...
- Koo J, Moon I, Shim W, Moon S, Kim J. Value of lying-down nystagmus in the lateralization of horizontal semicircular canal benign paroxysmal positional vertigo. Otol Neurotol. 2006;27:367-71 pubmed..The direction of lying-down nystagmus may help lateralizing the involved ear in horizontal canal benign paroxysmal positional vertigo. ..
- Weber Y, Roesche J, Lerche H. Epileptic nystagmus: two case reports, clinical and pathophysiological review of the literature. J Neurol. 2006;253:767-71 pubmed..The cardinal cortical region for EN is located at the junction of Brodmann areas 19/37/39 correlating with the main epileptogenic region observed in the analyzed cases. ..
- Lee S, Kim M, Cho K, Kim J. Reversal of initial positioning nystagmus in benign paroxysmal positional vertigo involving the horizontal canal. Ann N Y Acad Sci. 2009;1164:406-8 pubmed publisher..However, coexistence of canalo- and cupulolithiasis should be considered in the patient showing bilateral spontaneous reversal. ..
- Park H, Shin J, Lim Y, Shin H. Clinical significance of vibration-induced nystagmus. Audiol Neurootol. 2008;13:182-6 pubmed publisher..The VIN test can be helpful in determining the lesioned side in patients with VN; however, it has some limitations in localizing the lesioned side in patients with MD. ..
- Kaźmierczak H. [Select neuro-otologic procedures in vertigo cases]. Pol Merkur Lekarski. 2005;19:459-60 pubmed..The topo-diagnostic value of ocular tilt reaction, vertical nystagmus, rotational and horizontal nystagmus in central lesions was discussed. ..
- Butt T, Yao W, Kaul H, Xiaodong J, Gradstein L, Zhang Y, et al. Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p. Mol Vis. 2007;13:1635-40 pubmed..3-p32.2. Linkage analysis of autosomal recessive cataracts in two consanguineous Pakistani families localizes a novel locus for autosomal recessive congenital cataract on chromosome 1p. ..
- Lopez Escamez J, Zapata C, Molina M, Palma M. Dynamics of canal response to head-shaking test in benign paroxysmal positional vertigo. Acta Otolaryngol. 2007;127:1246-54 pubmed..04). Moreover, the time constant of vertical HSN was significantly lower for posterior canal BPPV when compared with controls (p < 0.02). ..
- Marti S, Straumann D, Glasauer S. The origin of downbeat nystagmus: an asymmetry in the distribution of on-directions of vertical gaze-velocity Purkinje cells. Ann N Y Acad Sci. 2005;1039:548-53 pubmed..Our hypothesis is supported by a computational model for vertical eye movements. ..
- Strupp M, Brandt T. Pharmacological advances in the treatment of neuro-otological and eye movement disorders. Curr Opin Neurol. 2006;19:33-40 pubmed
- Choi S, Kim D, Lee J, Kim J. Jerky hemi-seesaw nystagmus and head tilt reaction combined with internuclear ophthalmoplegia from a pontine infarction. J Clin Neurosci. 2009;16:456-8 pubmed publisher..INO may be accompanied by a variety of ocular findings associated with the disruption of the medial longitudinal fasciculus. ..
- Tong L. The spin test in latent nystagmus. Arch Ophthalmol. 2005;123:285; author reply 285 pubmed
- Feucht M, Griffiths B, Niemüller I, Haase W, Richard G, Mautner V. Neurofibromatosis 2 leads to higher incidence of strabismological and neuro-ophthalmological disorders. Acta Ophthalmol. 2008;86:882-6 pubmed publisher..Compared with the normal population, our sample showed a higher amount of strabismus, refractive errors and an increased incidence of vestibular nystagmus. ..
- Batuecas Caletrio A, Montes Jovellar L, Boleas Aguirre M, Perez Fernandez N. The ice-water caloric test. Acta Otolaryngol. 2009;129:1414-9 pubmed publisher..In two of these patients a vertical gravity-independent nystagmus response was observed. Bilateral hypofunction was found in 12 patients and the results in the head-impulse test were in agreement with the results in the ice-water test. ..
- Koga N, Ishikawa H. [Clinical evaluation of primary position downbeat nystagmus]. Nippon Ganka Gakkai Zasshi. 2006;110:468-72 pubmed..The causes of primary position down beat nystagmus tended to be age-dependent. The locations of causative lesions were the cerebellum and the inferior brain stem. ..
- Akoglu E, Okuyucu S, Okuyucu E, Melek I, Duman T, Dagli A. [The effectiveness of the Epley maneuver for the treatment of BPPV and the role of nystagmus direction as an early indicator of successful treatment]. Kulak Burun Bogaz Ihtis Derg. 2007;17:212-6 pubmed..625), a significant correlation was found between contralateral nystagmus and treatment failure (p=0.000). The occurrence of contralateral nystagmus during the Epley maneuver may be a sign of an unsuccessful result. ..
- Chen C, Cheng P, Tseng H, Young Y. Posterior cranial fossa tumors in young adults. Laryngoscope. 2006;116:1678-81 pubmed..However, the second most frequent one in young adults is glial neoplasm as opposed to meningioma in adults. ..
- Usanov D, Kashchenko T, Skripal A, Rabichev I, Usanova T, Abramov A, et al. [Effects of decreased nystagmus amplitude in children periodically exposed to light]. Vestn Oftalmol. 2006;122:21-3 pubmed..After periodic light exposures, there was a persistent suppression of nystagmus and a steady-state increase in visual acuity by an average of 0.1. ..
- Sugita Kitajima A, Koizuka I. Neuro-Behçet's disease with dizziness. Auris Nasus Larynx. 2010;37:229-32 pubmed publisher..T2-weighted and fluid-attenuated inversion recovery MRI showed slight hyperintense signals in the medulla oblongata, pons, and left midbrain. Neurological involvement in Behçet's disease was diagnosed. ..
- Brandt T, Baloh R. Rotational vertebral artery occlusion: a clinical entity or various syndromes?. Neurology. 2005;65:1156-7 pubmed
- Thurtell M, Tomsak R, Leigh R. Upbeat-torsional nystagmus and contralateral fourth-nerve palsy due to unilateral dorsal ponto mesencephalic lesion. Ann N Y Acad Sci. 2009;1164:476-8 pubmed publisher..These observations suggest that, in humans, excitatory upward-torsional eye movement signals from the anterior semicircular canals could be partly conveyed to the midbrain by the brachium conjunctivum. ..
- Akinci A, Oner O, Bozkurt O, Guven A, Degerliyurt A, Munir K. Refractive errors and ocular findings in children with intellectual disability: a controlled study. J AAPOS. 2008;12:477-81 pubmed publisher..To evaluate the ocular findings and refractive errors in children with intellectual disability and in controls of average intellectual development of similar socioeconomic backgrounds...
- den Hollander A, van Lith Verhoeven J, Arends M, Strom T, Cremers F, Hoyng C. Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa. Arch Ophthalmol. 2007;125:932-5 pubmed..This study confirms that TULP1 mutations cause a severe early-onset form of autosomal recessive retinitis pigmentosa. ..
- Califano L, Melillo M, Mazzone S, Vassallo A. Converting apogeotropic into geotropic lateral canalolithiasis by head-pitching manoeuvre in the sitting position. Acta Otorhinolaryngol Ital. 2008;28:287-91 pubmed..However, anterior flexion of the head in the geotropic forms must be avoided since involuntary and harmful transformations from the geotropic into the apogeotropic form can occur, moving otoliths towards the anterior arm and cupula. ..
- Kuwamura M, Murai F, Nishioka S, Aoki M, Ohashi F, Yamate J, et al. Late onset cerebellar cortical degeneration in a koala. Aust Vet J. 2009;87:342-4 pubmed publisher..The very late onset and slow progression of the cerebellar cortical degeneration in this case is particularly interesting and appears to be the first report in the koala. ..
- Theodorou M. Predicting visual acuity in early onset nystagmus. Semin Ophthalmol. 2006;21:97-101 pubmed..The mean velocity of the waveform may be used in preverbal children to give an estimate of best potential visual acuity in adulthood, and estimated best potential visual acuity at the current age. ..
- Bagheri A, Aletaha M, Abrishami M. The effect of horizontal rectus muscle surgery on clinical and eye movement recording indices in infantile nystagmus syndrome. Strabismus. 2010;18:58-64 pubmed publisher..02 & 0.04). Horizontal rectus muscle surgery in subjects with infantile nystagmus syndrome improves the visual acuity and nystagmus intensity. ..
- Papapetropoulos S, Scaravilli T, Morris H, An S, Henderson D, Quinn N, et al. Young onset limb spasticity with PSP-like brain and spinal cord NFT-tau pathology. Neurology. 2005;64:731-3 pubmed..Eight years later, postmortem revealed a tauopathy similar to progressive supranuclear palsy. Unusual aspects were early age at onset, neurofibrillary tangle, and tau involvement of the cord. ..
- Wang Z, Dell Osso L, Zhang Z, Leigh R, Jacobs J. Tenotomy does not affect saccadic velocities: support for the "small-signal" gain hypothesis. Vision Res. 2006;46:2259-67 pubmed..Current linear plant models, limited to normal steady-state muscle tension levels, cannot explain the effects of the tenotomy. ..
- Avci S, Kansu L, Akkuzu B, Ozgirgin N, Ozluoglu L. [A case of herpetic facial paralysis in which cochleovestibular symptoms outweigh facial nerve symptoms]. Kulak Burun Bogaz Ihtis Derg. 2008;18:40-3 pubmed..In this type of herpetic facial paralysis in which cochleovestibular symptoms outweigh facial nerve symptoms, it might be argued that varicella zoster virus reactivation occurs in the spiral and/or vestibular ganglion. ..
- Alkawi A, Kattah J, Wyman K. Downbeat nystagmus as a result of lamotrigine toxicity. Epilepsy Res. 2005;63:85-8 pubmed..In our cases, DBN and truncal ataxia occurred in conjunction with toxic lamotrigine serum levels. Anticonvulsant toxicity should be considered as a cause of DBN. Lamotrigine toxicity may be an unusual cause. ..
- Younge B, McLaren J, Brown W. Retinal image stability in head tremor and nystagmus: counterintuitive observations. J Neuroophthalmol. 2007;27:107-14 pubmed..Simple optics and a mathematical proof explain the clinical observations. The image stability in the patient with head tremor and the image instability in an eye with nystagmus are the consequences of the optical system of the eye. ..
- Mizrahi Meissonnier L, Merin S, Banin E, Sharon D. Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array. Invest Ophthalmol Vis Sci. 2010;51:3884-92 pubmed publisher..To examine the involvement of the long (L) and middle (M) wavelength-sensitive cone opsin genes in cone-dominated phenotypes...
- Sen A, Al Deleamy L, Kendirli T. Benign paroxysmal positional vertigo in an airline pilot. Aviat Space Environ Med. 2007;78:1060-3 pubmed
- Kerber K. Vertigo and dizziness in the emergency department. Emerg Med Clin North Am. 2009;27:39-50, viii pubmed publisher..An effective strategy for "ruling-out" a serious disorder, such as stroke, is "ruling-in" a peripheral vestibular disorder. In this article a focus is on the key features of these disorders. ..
- Di Rosa G, Spano M, Pustorino G, Ferrari M, Stam A, Sgrò D, et al. Alternating hemiplegia of childhood successfully treated with topiramate: 18 months of follow-up. Neurology. 2006;66:146 pubmed