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Vertical gaze palsy Vertical gaze palsy Contributors Heather E Moss MD PhD, author. Dr. Moss of the University of Illinois at Chicago has no relevant financial relationships to disclose. 11/08/14 17:37 Folder Path Neurology > Neuroophthalmology > Cranial nerve and gaze palsies > Vertical gaze palsy Quick Reference James Goodwin MD, editor. Dr. Goodwin of the University of Illinois at Chicago has no relevant financial relationships to disclose. Former author(s) Jason J S Barton MD PhD Sections of Summary - Historical note and nomenclature - Clinical manifestations - Clinical vignette - Etiology Publication dates Originally released July 19, 2001; last updated March 5, 2014; expires March 5, 2017 - Pathogenesis and pathophysiology - Epidemiology - Prevention - Differential diagnosis Synonyms Gaze paresis; Gaze preference; Saccadic palsy Key points • Vertical gaze palsies are due to damage to pre-motor structures in the midbrain, namely the rostral interstitial nucleus of the medial longitudinal fasciculus and the interstitial nuclear of Cajal. • Vertical gaze palsies can involve upgaze, downgaze, or both. • Parkinsonian conditions with vertical gaze palsies are due most often to tauopathies, such as progressive supranuclear palsy and corticobasal degeneration. • Several genetic defects can cause cerebellar ataxia with vertical gaze palsies, chief of which is Niemann Pick type C disease. - Diagnostic workup - Prognosis and complications - Management - Pregnancy - Anesthesia - ICD codes - OMIM Supplemental Content - Associated disorders - Related summaries - Differential diagnosis - Demographics References - References cited Historical note and nomenclature The term “gaze palsy” is best restricted to deficits in conjugate eye movements that affect both eyes. Thus, strictly unilateral problems such as palsies of cranial nerves III, IV, or VI are not gaze palsies, even though they do affect gaze. Likewise, impairments in vergence control, such as convergence or divergence insufficiency, are not gaze palsies, as they do not involve conjugate eye movements. A fundamental distinction is between vertical and horizontal gaze palsies. Most gaze palsies affect 1 direction in 1 plane of eye movement only, reflecting the separation of the prenuclear control systems for vertical and horizontal eye movement. Reduction of eye movements in all planes is best termed “generalized ophthalmoparesis.” These reductions are most commonly myopathic, occurring with mitochondrial disorders (chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome, MELAS), muscular dystrophies (myotonic dystrophy, oculopharyngeal dystrophy, congenital fibrosis), myasthenia gravis, or thyroid eye disease, among others. The term “gaze palsy” requires further elaboration. There are many different types of conjugate eye movements, including saccades, pursuit, optokinetic, and http://www.medlink.com/cip.asp?UID=mlt000t4 Related Items Illustrations - Enhancing pretectal lesion causing Parinaud syndrome (sagittal MRI) - Niemann Pick type C: foam cell - Vertical gaze palsy (axial MRI) Diagrams - Ocular motor control structures in brainstem (sagittal drawing) Videos - Niemann Pick type C: eye movements - Parkinsonism and upgaze palsy (posttraumatic) treated with shunting - Progressive supranuclear Página 1 de 14 Vertical gaze palsy vestibulo-ocular responses. The anatomic systems that control these diverge and converge at various levels, and it is possible for some lesions to impair some eye movement systems and spare others. Hence, a left saccadic palsy is a selective gaze palsy affecting only leftward saccades but not leftward pursuit or vestibuloocular response. A palsy affecting all types of eye movements should be designated as a nonselective gaze palsy. Most vertical gaze palsies are selective in nature. In contrast, the terms “partial” or “complete” when applied to gaze palsy indicate whether some motion across midline in the paretic direction is present. 11/08/14 17:37 palsy: saccades and pursuit - Progressive supranuclear palsy: vestibular vertical eye movements Web Resources Google Scholar - Other articles on this topic PubMed - Other articles on this topic Other Related Links Clinical manifestations Vertical palsies usually appear selective, affecting primarily saccades. However, though clinical testing often shows sparing of pursuit and vestibulo-ocular range, quantitative testing of eye movements shows that this selectivity is relative and not absolute (Sharpe and Kim 2002). Pursuit gain and vestibulo-ocular reflexes are impaired in many patients, though dissociable. Upgaze palsy is most frequent, combined upgaze and downgaze palsy is next in frequency, and pure downgaze palsy the most unusual (Bogousslavsky et al 1988). Because these are due to lesions of rostral midbrain nuclei, associated signs include pupillary or ocular motor signs of partial nuclear or fascicular third palsies (Castaigne et al 1981; Beversdorff et al 1995), including rarely a wall-eyed bilateral internuclear ophthalmoplegia (Sierra-Hidalgo et al 2010), impaired convergence, and skew deviation (Ranalli and Sharpe 1988; Steinke et al 1992). Somnolence or even a transient fluctuating coma at onset reflects damage to the reticular activating system (Castaigne et al 1981; Bogousslavsky et al 1988; Beversdorff et al 1995). Behavioral disturbances from thalamic damage include hemineglect, amnestic syndromes (Bogousslavsky et al 1988; Beversdorff et al 1995), akinetic mutism, or subcortical demented states with apathy and slowness of thought (Guberman and Stuss 1983). Upgaze palsy. This is frequent with unilateral lesions at either the thalamomesencephalic junction (Bogousslavsky et al 1986; 1988), or the posterior commissure, or its nucleus (Buttner-Ennever et al 1982). There are often other signs of the pretectal syndrome. A lesion of the periaqueductal grey matter rarely causes this, perhaps by destroying descending outputs from the riMLF (Thames et al 1984). Rarely, it occurs as a transient effect of right frontoparietal lesions, with bilateral ptosis (Averbuch-Heller et al 1996). Downgaze palsy. This occurs with bilateral dorsomedial lesions of the rostral intrastitial nucleus of the medial longitudinal fasciculus (Buttner-Ennever et al 1982; Bogousslavsky et al 1988). It is hypothesized that bilateral lesions extending laterally impair upgaze also; therefore, selective downgaze palsy must require a small and specific lesion, accounting for its rarity (Pierrot-Deseilligny et al 1982). Convergence, accommodative responses, and the pupillary near response may all be impaired too (Cogan 1974). The pupillary light response can be affected (Cogan 1974) or preserved (Pierrot-Deseilligny et al 1982). Skew deviation and internuclear ophthalmoplegia can occur (Cogan 1974). Downgaze is also affected by akinetic movement disorders, most typically progressive supranuclear palsy (Cogan 1974). Combined up and down gaze palsy. The lesions involve the riMLF or the interstitial nucleus of Cajal, most frequently bilaterally. In the less common unilateral cases the lesion of the ipsilateral riMLF likely also interrupts decussating fibers from the contralateral riMLF. Vertical vestibulo-ocular response frequently appears normal (Buttner-Ennever et al 1982; Page et al http://www.medlink.com/cip.asp?UID=mlt000t4 - Video: Convergence Spasm (NOVEL/Daroff Collection) - Video: Vertical Gaze Paralysis (NOVEL/Daroff Collection) - Daroff NeuroOphthalmology Video Collection About Links - About Web Resources Página 2 de 14 Vertical gaze palsy 11/08/14 17:37 1982; Pierrot-Deseilligny et al 1982; Yamamoto 1989; Bogousslavsky et al 1990), but is sometimes absent (Beversdorff et al 1995) or impaired in 1 direction alone (Guberman and Stuss 1983). Torsional and vertical nystagmus may occur if the interstitial nucleus of Cajal is involved (Ranalli and Sharpe 1988). Bell phenomenon can be absent (Page et al 1982) or inverted (Ranalli and Sharpe 1988). Pretectal syndrome. This syndrome combines vertical supranuclear palsy, affecting either upgaze alone or both upgaze and downgaze, sparing vestibuloocular response range, with a variable number of other signs (Keane 1990). These include light-near pupillary dissociation, with loss of the pupillary light reactions from damage to the pretectum, Collier lid retraction sign, and skew deviation. Horizontal conjugate eye movements are spared but there may be esotropia, exotropia, or convergence insufficiency. An unusual convergenceretraction nystagmus is pathognomonic. Fragmentary pretectal syndrome, with only some of the above features, is common. Vertical one-and-a-half and other syndromes. Rarely a patient may have a vertical impairment that spares only a single direction in 1 eye. Supranuclear bilateral downgaze paresis affecting all movements combined with monocular elevator palsy occurs with bilateral midbrain infarction (Deleu et al 1989). The opposite, supranuclear bilateral upgaze paresis with monocular depressor palsy, has also been described with unilateral midbrain infarctions (Bogousslavsky and Regli 1984; Miyashita et al 1987; Gulyas et al 2006). A unique case of ipsilateral monocular elevator paresis and contralateral monocular depressor paresis, combined with mild bilateral ptosis, has been reported (Wiest et al 1996). Finally, a patient with supranuclear vertical palsy combined with complete ophthalmoplegia of 1 eye has been described, with the ophthalmoplegia attributed to a combination of oculomotor nerve palsy and pseudoabducens palsy (Thurtell et al 2009). Vertical congenital ocular motor apraxia is rare (Ro et al 1989; Brown and Willshaw 2003) and has been related to perinatal hypoxia (Hughes et al 1985) or bilateral mesencephalic-diencephalic lesions (Ebner et al 1990). Combined vertical and horizontal ocular motor apraxia can be seen in conditions such as Joubert syndrome (Tusa and Hove 1999). Clinical vignette A 69-year-old orthopedic surgeon suffered a stroke 6 months prior to evaluation. He presented with somnolence, imbalance, and diplopia. His initial examination notes documented a right third nerve palsy and ataxic gait. His symptoms had improved but still persisted. The drowsiness responded to methylphenidate. He had no anisocoria in bright light or darkness, and light reactions were intact. He had no ptosis, but developed lid retraction in attempted upgaze (Collier sign). Neither eye elevated more than 10% past midline, whether saccades, pursuit, Doll eye maneuver, or Bell phenomenon were tried. Downgaze was also absent with the exception of Doll eye maneuver, indicating that downward vestibuloocular response was relatively spared. The right eye had only 50% of normal adduction range, which was not improved by convergence. Horizontal saccades and pursuit were otherwise normal. He was intermittently drowsy during examination, and his gait showed a wide-based ataxia requiring support. His ocular signs represented a combination of right third nuclear palsy, with impaired adduction and bilateral elevation paresis, and a supranuclear downgaze palsy. The sparing of downward vestibulo-ocular response confirmed that this http://www.medlink.com/cip.asp?UID=mlt000t4 Página 3 de 14 Vertical gaze palsy 11/08/14 17:37 was a supranuclear defect, most likely due to involvement of the riMLF. Conversely, the lack of upward vestibulo-ocular response suggested that upgaze palsy is not due only to riMLF or interstitial nucleus of Cajal involvement but likely the third nucleus itself. Third nuclear lesions affected both the ipsilateral superior rectus subnucleus (which innervates the contralateral eye) and decussating fibers from the contralateral superior rectus subnucleus. His MRI showed bilateral lesions of the thalamomesencephalic junction, consistent with a “top of the basilar” stroke affecting both paramedian thalamic arteries. Etiology Infarction in the territory of the paramedian artery (a “top of the basilar” syndrome) can cause any vertical gaze palsy. This can occur with unilateral lesions (Alemdar et al 2006). Brainstem ischemia is the likely mechanism of slowed saccades or reduced gaze range in vertical or all directions following cardiac surgery, though MRI and CT imaging are usually unremarkable (Solomon et al 2008). Diffusion-weighted imaging can be particularly helpful with this discrete lesion (Seifert et al 2004). Thalamic hemorrhage, especially with intraventricular extension, is a common cause (Steinke et al 1992). Associated signs of fixed pupils, horizontal gaze problems, and skew deviation are more common with hemorrhages than infarcts. Other causes include degenerative conditions, most commonly progressive supranuclear palsy. In this condition, gaze palsy and early postural instability may be a marker of a variant with shorter lifespan and different tau isoforms (Williams et al 2005a). Demonstration of slowing of both vertical and horizontal saccades on eye movement recordings may be useful in differentiating this condition from Parkinson disease (Pinkhardt et al 2008). Comparisons of the pathology of parkinsonian syndromes show greater midbrain atrophy when there are vertical gaze abnormalities to point to progressive supranuclear palsy (Song et al 2011). There is accumulating evidence that progressive supranuclear palsy is a disorder involving the tau protein primarily (Dickson et al 2007); interestingly, vertical gaze palsy has also been reported in other “tauopathies,” such as corticobasal degeneration (Klodowska-Duda et al 2006); indeed, up to half of patients with corticobasal degeneration have vertical gaze palsies early in their course (Ling et al 2010). Other more rare degenerative conditions with vertical gaze palsy include parkinsonism-dementia complex (Oyanagi et al 2000), sometimes of the frontotemporal variety (Slowinski et al 2007), dentatorubral pallidoluysian atrophy (Espay et al 2006), and rarely dementia with Lewy bodies (Nakashima et al 2003; Clerici et al 2005). Mild vertical gaze palsy is seen in about a quarter of patients with multiple system atrophy (Anderson et al 2008). A variant of amyotrophic lateral sclerosis causes slowed vertical saccades (Averbuch-Heller et al 1998; Knirsch et al 2000) and vertical gaze palsy (Ushio et al 2009). Infectious or para-infectious conditions include paraneoplastic encephalitis (Bennett et al 1999), prion disease (Oba et al 2000; Kovacs et al 2011), Whipple disease (Pruss et al 2007), and HIV encephalitis (Kitthaweesin 2002). Vertical gaze palsy can also occur uncommonly in sporadic or familial variants of Creutzfeldt-Jakob disease (Prasad et al 2007). Genetic defects with vertical gaze palsy include a number of conditions that share a predominance of cerebellar features. Chief among these is Niemann-Pick type C (Cogan et al 1981). This presents in childhood (average age at diagnosis is 10 years) and is preceded by jaundice and hepatosplenomegaly at http://www.medlink.com/cip.asp?UID=mlt000t4 Página 4 de 14 Vertical gaze palsy 11/08/14 17:37 birth in about half of patients; vertical gaze palsy is present in 70% to 80% of patients (Garver et al 2007; Patterson et al 2013). Juvenile and adult-onset cases are increasingly recognized: visceral signs are less common, and cases present with initial psychiatric or cognitive problems, dyslexia, cerebellar ataxia and dysarthria, dysphagia, and, less commonly, seizures and dystonia (Vanier 2010). In a cohort of patients with young adult–onset degenerative ataxia, cognitive decline, and vertical gaze palsy, 4 of 13 (31%) had Niemann-Pick type C (Schicks et al 2013). Dementia and death in mid-adulthood are common, but the natural history is highly variable across subjects. In 90% of patients, this is due to a mutation in the NPC1 gene, the remainder are due to NPC2 mutations. The NPC proteins are involved in intracellular trafficking of cholesterol systemically and sphingolipids in the brain (Vanier 2010). Another rare autosomal recessive condition consists of cerebellar ataxia and dysarthria, myoclonus and seizures, and sensory neuropathy and upgaze palsy (Straussberg et al 2005). A hereditary degenerative disorder has been described in Newfoundland, with manifestations in childhood or early adulthood of impaired downgaze followed by lower limb spasticity and then ataxia, dysarthria, and dysphagia (Grewal et al 2004). Other genetic conditions fall under the rubric of early-onset parkinsonism. Kufor Rakeb disease is an autosomal recessive condition with levodopa-responsive parkinsonism, pyramidal signs, dementia, and upgaze palsy, with onset in the teens and often death in early adulthood; it has been reported in Jordan (Williams et al 2005b) and Chile and has been associated with mutations of the ATP13A2 gene at the PARK9 locus (Behrens et al 2010). The vertical gaze palsy is useful in distinguishing this entity from a number of other early-onset autosomal recessive parkinsonian syndromes (Paisan-Ruiz et al 2010). Perry syndrome is a rare autosomal dominant Parkinsonism with respiratory failure due to a mutation in the DCTN1 gene, and in some can be associated with a downgaze palsy (Newsway et al 2010). Pantothenate kinase-associated neurodegeneration, a slowly progressive disease beginning in childhood and characterized by dystonia, parkinsonism, spasticity, retardation, and visual loss, can also cause impaired vertical saccades and pursuit (Bozi et al 2009). Rare causes include encephalitis, brain abscess, trauma, transtentorial herniation, and Wernicke encephalopathy (Keane 1990). There is one case of pachymeningitis associated with rheumatoid arthritis mimicking progressive supranuclear palsy (Aguilar-Amat et al 2011). Iatrogenic vertical gaze palsy has been described after implantation of depth electrodes for stimulation, presumably due to damage to the riMLF (Ackermans et al 2007). Pathogenesis and pathophysiology The rostral mesencephalon has medial structures that provide vertical gaze inputs to the ocular motor nuclei (Pierrot-Deseilligny et al 1982; Ranalli and Sharpe 1988; Bhidayasiri et al 2000). The riMLF has excitatory burst neurons for vertical saccades. It receives control inputs from long-lead burst and omnipause neurons in the paramedian pontine reticular formation. The neurons for upward saccades are lateral to those for downgaze (Buttner-Ennever et al 1982; Pierrot-Deseilligny et al 1982; Ranalli and Sharpe 1988). This may explain why upgaze is sometimes spared with bilateral riMLF lesions. An alternative explanation is that upgaze motor neurons receive bilateral input from these prenuclear structures, whereas downgaze ones do not and, hence, are more vulnerable to partial destruction of the riMLFs (Bhidayasiri et al 2000). http://www.medlink.com/cip.asp?UID=mlt000t4 Página 5 de 14 Vertical gaze palsy 11/08/14 17:37 The interstitial nucleus of Cajal performs several functions. It mediates vertical smooth pursuit with inputs from lower brainstem and cerebellar structures that traverse the brachium conjunctivum and the medial longitudinal fasciculus. It also takes vertical and torsional velocity commands to determine the firing rates to hold gaze steady in eccentric vertical positions. Although the interstitial nucleus of Cajal forms part of an indirect vertical vestibulo-ocular response pathway, the pathway projects from the vestibular nuclei directly to the third and fourth nuclei through the medial longitudinal fasciculus and the brachium conjunctivum. The projections to ocular motor nuclei from the riMLF and interstitial nucleus of Cajal for upward movements decussate in the posterior commissure, but not those for downgaze. Epidemiology Not applicable. Prevention Not applicable. Differential diagnosis Graves ophthalmopathy often causes restriction of the inferior recti, occasionally mimicking an upgaze palsy. Furthermore the lid retraction in Graves can be confused with Collier sign. A key difference is that the lid retraction in Graves often increases in downgaze (lid lag) rather than in upgaze. Proptosis and conjunctival injection are other helpful clues pointing to thyroid disease (Bartley and Gorman 1995). Most patients are hyperthyroid, but some are hypothyroid, and 15% are even euthyroid (Yeatts 1995). Seventy-five percent already have a history of thyroid dysfunction (Gorman 1983), but this can follow ophthalmopathy months later. Myasthenia gravis can also mimic gaze palsy, though this is usually an asymmetric disease with complaints of diplopia. Variability and fatigability are key aspects that point to a neuromuscular junction problem. Ptosis develops eventually in most patients with myasthenia. Proximal limb or bulbar weakness with fatigability are helpful, but will not be present in ocular myasthenia. The edrophonium test, single-fiber electromyography, repetitive nerve conduction studies, and assays for antibodies to acetylcholine receptor are useful tests, but the sensitivity of each of these is only 70% or less when myasthenia is confined to the eye muscles (Vincent and Newsom-Davies 1980; Evoli et al 1988; Morel et al 1988). Botulism is another neuromuscular junction problem that affects the ocular motor system. Signs of cholinergic autonomic hypofunction such as dilated unreactive pupils, urinary retention, and decreased bowel sounds are important clues. Miller-Fisher syndrome is a triad of ophthalmoplegia, ataxia, and areflexia, sometimes following an upper respiratory or gastrointestinal tract infection by a few weeks (Berlit and Rakicky 1992). A symmetric paresis of upgaze is a common early presentation, though with time other eye movements are usually affected too (Al-Din et al 1994). Sometimes the ocular motor defects occur without ataxia, and rare cases of vertical gaze palsy in this situation have been described (Lee et al 2008). Anti-GQ1b antibodies are present in serum (Chiba et http://www.medlink.com/cip.asp?UID=mlt000t4 Página 6 de 14 Vertical gaze palsy 11/08/14 17:37 al 1992; 1993; Willison et al 1993). Diagnostic workup Imaging of the midbrain and the thalamomesencephalic junction is key to the diagnosis of vertical gaze palsies. MRI is preferred, and will detect most cases with vascular or neoplastic origin. Gaze palsy in parkinsonian conditions like progressive supranuclear palsy correlate with midbrain atrophy, creating the “morning glory sign” (Adachi et al 2004). In cases with gradual or subacute onset, disorders of muscle, neuromuscular junction, or peripheral nerves should be considered. Their tests are listed in the section on differential diagnosis. Niemann-Pick type C might be suspected from cognitive and cerebellar dysfunction associated with elevation in serum transaminases and hepatosplenomegaly (Tyvaert et al 2005), in which case a bone marrow biopsy and skin fibroblast assay for sphingomyelinase activity are indicated. . Genetic testing can also be done for this condition. Widespread signs of motor neuron dysfunction are usually present in the patients with amyotrophic lateral sclerosis and can be confirmed with electromyography. Prognosis and complications Prognosis varies with cause. With thalamic hemorrhages, there is usually some resolution over several weeks. Shunting in hydrocephalus has variable effect (Keane 1990; Niwa et al 2006). Management After treatable causes have been investigated and managed, symptomatic treatment can be considered. Some patients with limited downgaze complain of trouble reading. This can be helped with base-down prisms in both lenses of their reading glasses. Upgaze limitation rarely requires symptomatic treatment. Unilateral prisms can help eliminate diplopia in those with asymmetric ocular alignment if there is an associated skew deviation or third nerve palsy. Some physiotherapists have suggested that eye movement exercises can improve gaze control in progressive supranuclear palsy (Zampieri and di Fabio 2009), although this is not widely accepted. Miglustat is being widely evaluated as a treatment for Niemann-Pick disease type C (Patterson et al 2007). Eye movement recordings have been used as a component of the monitoring of efficacy of treatment (Patterson et al 2007; Scheel et al 2010). Pregnancy Not applicable. Anesthesia Not applicable. ICD codes ICD-9: Palsy of conjugate gaze: 378.81 Deficiencies of saccadic eye movements: 379.57 http://www.medlink.com/cip.asp?UID=mlt000t4 Página 7 de 14 Vertical gaze palsy 11/08/14 17:37 Deficiencies of smooth pursuit movements: 379.58 ICD-10: Palsy of conjugate gaze: H51.0 Nystagmus and other irregular eye movements: H55 Associated disorders Ataxia-telangiectasia Progressive supranuclear palsy Related summaries Niemann-Pick disease type C Differential diagnosis Graves ophthalmopathy thyroid dysfunction myasthenia gravis neuromuscular junction problem botulism Miller-Fisher syndrome Demographics For more specific demographic information, see the Epidemiology, Etiology, and Pathogenesis and pathophysiology sections of this clinical summary. Age 0-01 month 01-23 months 02-05 years 06-12 years 13-18 years 19-44 years 45-64 years 65+ years Population None selectively affected. Occupation None selectively affected. 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