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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.

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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
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Diagrams
- Ocular motor control
structures in brainstem
(sagittal drawing)

Videos
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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.

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palsy: saccades and pursuit


- Progressive supranuclear
palsy: vestibular vertical
eye movements

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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
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- Video: Convergence Spasm


(NOVEL/Daroff Collection)
- Video: Vertical Gaze
Paralysis (NOVEL/Daroff
Collection)
- Daroff NeuroOphthalmology Video
Collection

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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
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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
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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 adultonset 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).
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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
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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
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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.
Sex
male=female
Family history
family history may be obtained
Heredity
heredity may be a factor

References cited

Ackermans L, Temel Y, Bauer NJ, Visser-Vandewalle V; Dutch-Flemish Tourette


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Surgery Study Group. Vertical gaze palsy after thalamic stimulation for Tourette
syndrome: case report. Neurosurgery 2007;61(5):E1100; discussion E1100.
Adachi M, Kawanami T, Ohshima H, Sugai Y, Hosoya T. Morning glory sign: a
particular MR finding in progressive supranuclear palsy. Magnetic Resonance Med
Sci 2004;3:125-32.
Aguilar-Amat MJ, Abenza-Abilda MJ, Vivancos F, et al. Rheumatoid meningitis
mimicking progressive supranuclear palsy. Neurologist 2011;17(3):136-40.
Al-Din N, Anderson M, Eeg-Olofsson O, Trontelj T. Neuro-ophthalmic
manifestations of the syndrome of ophthalmoplegia, ataxia, and areflexia: a
review. Acta Neurol Scand 1994;89:157-63.
Alemdar M, Kamaci S, Budak F. Unilateral midbrain infarction causing upward
and downward gaze palsy. J Neuroophthalmol 2006;26(3):173-6.
Anderson T, Luxon L, Quinn N, Daniel S, Marsden CD, Bronstein A. Oculomotor
function in multiple system atrophy: clinical and laboratory features in 30
patients. Mov Disord 2008;23(7):977-84.
Averbuch-Heller L, Helmchen C, Horn A, Leigh R, Buttner-Ennever J. Slow
vertical saccades in motor neuron disease: correlation of structure and function.
Ann Neurol 1998;44:641-8.
Averbuch-Heller L, Stahl J, Remler B, Leigh R. Bilateral ptosis and upgaze palsy
with right hemispheric lesions. Ann Neurol 1996;40:465-8.
Bartley G, Gorman C. Diagnostic criteria for Graves' ophthalmopathy. Am J
Ophthalmol 1995;119:792-5.
Behrens MI, Brggemann N, Chana P, et al. Clinical spectrum of Kufor-Rakeb
syndrome in the Chilean kindred with ATP13A2 mutations. Mov Disord
2010;25(12):1929-37.
Bennett J, Galetta S, Frohman L, et al. Neuro-ophthalmologic manifestations of a
paraneoplastic syndrome and testicular carcinoma. Neurology 1999;52:864-7.
Berlit P, Rakicky J. The Miller Fisher syndrome. Review of the literature. J Clin
Neuroophthalmol 1992;12:57-63.
Beversdorff D, Jenkyn L, Petrowski J, Cromwell L, Nordgren R. Vertical gazed
paralysis and intermittent unresponsiveness in a patient with a
thalamomesencephalic stroke. J Neuro-ophthalmol 1995;15:230-5.
Bhidayasiri R, Plant G, Leigh R. A hypothetical scheme for the brainstem control
of vertical gaze. Neurology 2000;54:1985-93.
Bogousslavsky J, Miklossy J, Deruaz J, Regli F, Assal G. Unilateral left
paramedian infarction of thalamus and midbrain: a clinico-pathological study. J
Neurol Neurosurg Psychiatry 1986;49:686-94.
Bogousslavsky J, Miklossy J, Regli F, Janzer R: Vertical gaze palsy and selective
http://www.medlink.com/cip.asp?UID=mlt000t4

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unilateral infarction of the rostral interstitial nucleus of the medial longitudinal


fasciculus (riMLF). J Neurol Neurosurg Psychiatry 1990;53(1):67-71.
Bogousslavsky J, Regli F. Upgaze palsy and monocular paresis of downward gaze
from ipsilateral thalamo-mesencephalic infarction: a vertical "one-and-a-half"
syndrome. J Neurol 1984;231(1):43-5.
Bogousslavsky J, Regli F, Uske A. Thalamic infarcts: clinical syndromes, etiology,
and prognosis. Neurology 1988;38(6):837-48.
Bozi M, Matarin M, Theocharis I, Potagas C, Stefanis L. A patient with
pantothenate kinase-associated neurodegeneration and supranuclear gaze palsy.
Clin Neurol Neurosurg 2009;111(8):688-90.
Brown H, Willshaw HE. A case of disturbed vertical gaze. Eur J Paediatr Neurol
2003;7(4):173-5.
Buttner-Ennever J, Buttner U, Cohen B, Baumgartner G. Vertical gaze paralysis
and the rostral interstitial nucleus of the medial longitudinal fasciculus. Brain
1982;105:125-49.
Castaigne P, Lhermitte F, Buge A, Escourolle R, Hauw J, Lyon-Caen O.
Paramedian thalamic and midbrain infarcts: clinical and neuropathological study.
Ann Neurol 1981;10:127-48.
Chiba A, Kusunoki S, Obata H, Machinami R, Kanazawa I. Serum anti-GQ1b IgG
antibody is associated with ophthalmoplegia in Miller Fisher syndrome and
Guillain-Barr syndrome. Neurology 1993;43:1911-7.
Chiba A, Kusunoki S, Shimizu T, Kanazawa I. Serum IgG antibody to ganglioside
GQ1b is a possible marker of Miller Fisher syndrome. Ann Neurol 1992;31:677-9.
Clerici F, Ratti PL, Pomati S, et al. Dementia with Lewy bodies with supranuclear
gaze palsy: a matter of diagnosis. Neurol Sci 2005;26:358-61.
Cogan D. Paralysis of downgaze. Arch Ophthalmol 1974;91:192-9.
Cogan D, Chu F, Bachman D, Barranger J. The DAF syndrome. Neuroophthalmology 1981;2:7-16.
Deleu D, Buisseret T, Ebinger G. Vertical one-and-a-half syndrome. Arch Neurol
1989;46:1361-3.
Dickson DW, Rademakers R, Hutton ML. Progressive supranuclear palsy:
pathology and genetics. Brain Pathol 2007;17(1):74-82.
Ebner R, Lopez L, Ochoa S, Crovetto L. Vertical ocular motor apraxia. Neurology
1990;40:712-3.
Espay AJ, Bergeron C, Chen R, Lang AE. Rapidly progressive sporadic
dentatorubral pallidoluysian atrophy with intracytoplasmic inclusions and no CAG
repeat expansion. Mov Disord 2006;21(12):2251-4.

http://www.medlink.com/cip.asp?UID=mlt000t4

Pgina 10 de 14

Vertical gaze palsy

11/08/14 17:37

Evoli A, Tonali P, Bartoccioni F, Lo Monavo M. Ocular myasthenia: diagnosis and


therapeutic problems. Acta Neurol Scand 1988;77:31-5.
Garver WS, Francis GA, Jelinek D, et al. The National Niemann-Pick C1 disease
database: report of clinical features and health problems. Am J Med Genet A
2007;143(11):1204-11.
Gorman C. Temporal relationship between onset of Graves' ophthalmopathy and
diagnosis of thyrotoxicosis. Mayo Clin Proc 1983;58:515-9.
Grewal KK, Stefanelli MG, Meijer IA, Hand CK, Rouleau GA, Ives EJ. A founder
effect in three large Newfoundland families with a novel clinically variable spastic
ataxia and supranuclear gaze palsy. Am J Med Genet 2004;131A:249-54.
Guberman A, Stuss D. The syndrome of bilateral paramedian thalamic infarction.
Neurology 1983;33:540-6.
Gulyas S, Nagy F, Szirmai I. [Complex eye movement disturbance in thalamic
and mesencephalic infarcts]. Ideggyogy Sz 2006;59(5-6):193-200.
Hughes J, O'Connor P, Larsen P, Mumma J. Congenital vertical ocular motor
apraxia. J Clin Neuroophthalmol 1985;5:153-7.
Keane J. The pretectal syndrome: 206 patients. Neurology 1990;40:684-90.
Kitthaweesin K. Upward gaze paralysis as the initial manifestation of HIV-infected
patient: a case report. J Med Assoc Thai 2002;85(6):728-32.
Klodowska-Duda G, Slowinski J, Opala G, et al. Corticobasal degeneration -clinico-pathological considerations. Folia Neuropathol 2006;44(4):257-64.
Knirsch UI, Bachus R, Gosztonyi G, Zschenderlein R, Ludolph AC.
Clinicopathological study of atypical motor neuron disease with vertical gaze
palsy and ballism. Acta Neuropathol (Berl) 2000;100(3):342-6.
Kovacs GG, Seguin J, Quadrio I, et al. Genetic Creutzfeldt-Jakob disease
associated with the E200K mutation: characterization of a complex
proteinopathy. Acta Neuropathol 2011;121(1):39-57.
Lee SH, Lim GH, Kim JS, et al. Acute ophthalmoplegia (without ataxia)
associated with anti-gq1b antibody. Neurology 2008;71(6):426-9.
Ling H, O'Sullivan SS, Holton JL, et al. Does corticobasal degeneration exist? A
clinicopathological re-evaluation. Brain 2010;133(Pt 7):2045-57.
Miyashita K, Sawada T, Satomi M. Upgaze palsy and monocular paresis of
downgaze caused by ipsilateral thalamo-mesencephalic hemorrhage: a so-called
vertical "one-and-a-half" syndrome. Rinsho Shinkeigaku 1987;27:1407-11.
Morel E, Vernet-der-Garabedian B, Eymard B, Raimond F, Bustarret FA, Bach JF.
Binding and blocking antibodies to the human acetylcholine receptor: are they
selected in various myasthenia gravis forms? Immunol Res 1988;7:212-7.

http://www.medlink.com/cip.asp?UID=mlt000t4

Pgina 11 de 14

Vertical gaze palsy

11/08/14 17:37

Nakashima H, Terada S, Ishizu H, et al. An autopsied case of dementia with Lewy


bodies with supranuclear gaze palsy. Neurol Res 2003;25(5):533-7.
Newsway V, Fish M, Rohrer JD, et al. Perry syndrome due to the DCTN1 G71R
mutation: a distinctive levodopa responsive disorder with behavioral syndrome,
vertical gaze palsy, and respiratory failure. Mov Disord 2010;25(6):759-62.
Niwa H, Hara T, Hama T, Murakami N. [Successful outcome of VP shunt
operation in 3 cases of idiopathic normal pressure hydrocephalus with long
duration of illness]. Rinsho Shinkeigaku 2006;46(8):544-9.
Oba N, Fujimoto Y, Hirata K, Ando N, Saida K. [A case of Gerstmann-StrausslerScheinker disease with severe muscular atrophy and vertical gaze palsy]. Rinsho
Shinkeigaku 2000;40(7):726-31.
Oyanagi K, Chen KM, Craig UK, Yamazaki M, Perl DP. Parkinsonism, dementia
and vertical gaze palsy in a Guamanian with atypical neuroglial degeneration.
Acta Neuropathol (Berl) 2000;99(1):73-80.
Page NG, Lean JS, Sanders MD. Vertical supranuclear gaze palsy with secondary
syphilis. J Neurol Neurosurg Psychiatry 1982;45(1):86-8.
Paisan-Ruiz C, Guevara R, Federoff M, et al. Early-onset L-dopa-responsive
parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and
spatacsin mutations. Mov Disord 2010;25(12):1791-800.
Patterson MC, Mengel E, Wijburg FA et al. Disease and patient characteristics in
NP-C patients: findings from an international disease registry. Orphanet J Rare
Dis 2013;8:12.
Patterson MC, Vecchio D, Prady H, Abel L, Wraith JE. Miglustat for treatment of
Niemann-Pick C disease: a randomised controlled study. Lancet Neurol
2007;6(9):765-72.
Pierrot-Deseilligny CH, Chain F, Gray F, Serdaru M, Escourolle R, Lhermitte F.
Parinaud's syndrome: electro-oculographic and anatomical analyses of six
vascular cases with deductions about vertical gaze organization in the premotor
structures. Brain 1982;105(Pt 4):667-96.
Pinkhardt EH, Jrgens R, Becker W, Valdarno F, Ludolph AC, Kassubek J.
Differential diagnostic value of eye movement recording in PSP-parkinsonism,
Richardson's syndrome, and idiopathic Parkinson's disease. J Neurol
2008;255(12):1916-25.
Prasad S, Ko MW, Lee EB, Gonatas NK, Stern MB, Galetta S. Supranuclear
vertical gaze abnormalities in sporadic Creutzfeldt-Jakob disease. J Neurol Sci
2007;253(1-2):69-72.
Pruss H, Katchanov J, Zschenderlein R, Loddenkemper C, Schneider T, Moos V. A
patient with cerebral Whipple disease with gastric involvement but no
gastrointestinal symptoms: a consequence of local protective immunity? J Neurol
Neurosurg Psychiatry 2007;78(8):896-8.

http://www.medlink.com/cip.asp?UID=mlt000t4

Pgina 12 de 14

Vertical gaze palsy

11/08/14 17:37

Ranalli PJ, Sharpe JA. Upbeat nystagmus and the ventral tegmental pathway of
the upward vestibulo-ocular reflex. Neurology 1988;38(8):1329-30.
Ro A, Gummeson B, Orton R, Cadera W. Vertical congenital ocular motor apraxia.
Can J Ophthalmol 1989;24:283-5.
Scheel M, Abegg M, Lanyon LJ, Mattman A, Barton JJ. Eye movement and
diffusion tensor imaging analysis of treatment effects in a Niemann-Pick Type C
patient. Mol Genet Metab 2010;99(3):291-5.
Schicks J, Muller vom Hagen J, Bauer P, et al. Niemann-Pick type C is frequent in
adult ataxia with cognitive decline and vertical gaze palsy. Neurology
2013;80(12):1169-70.
Seifert T, Enzinger C, Ropele S, Storch MK, Fazekas F. Midbrain ischemia
presenting as vertical gaze palsy: value of diffusion-weighted magnetic
resonance imaging. Cerebrovasc Dis 2004;18:3-7.
Sharpe JA, Kim JS. Midbrain disorders of vertical gaze. A quantitative reevaluation. Ann N Y Acad Sci 2002;956:143-54.
Sierra-Hidalgo F, Moreno-Ramos T, Villarejo A, et al. A variant of WEBINO
syndrome after top of the basilar artery stroke. Clin Neurol Neurosurg
2010;112(9):801-4.
Slowinski J, Dominik J, Uitti RJ, Ahmed Z, Dickson DD, Wszolek ZK.
Frontotemporal dementia and Parkinsonism linked to chromosome 17 with the
N279K tau mutation. Neuropathology 2007;27(1):73-80.
Solomon D, Ramat S, Tomsak RL, et al. Saccadic palsy after cardiac surgery:
characteristics and pathogenesis. Ann Neurol 2008;63(3):355-65.
Song YJ, Huang Y, Halliday GM. Clinical correlates of similar pathologies in
parkinsonian syndromes. Mov Disord 2011;26(3):499-506.
Steinke W, Sacco R, Mohr J, et al. Thalamic stroke. Presentation and prognosis of
infarcts and hemorrhages. Arch Neurol 1992;49:703-10.
Straussberg R, Basel-Vanagaite L, Kivity S, et al. An autosomal recessive
cerebellar ataxia syndrome with upward gaze palsy, neuropathy and seizures.
Neurology 2005;64:142-4.
Thames P, Trobe J, Ballinger W. Upgaze paralysis caused by lesion of the
periaqueductal gray matter. Arch Neurol 1984;41:437-40.
Thurtell MJ, Leigh RJ, Halmagyi GM. Monocular ophthalmoplegia and partial
supranuclear vertical gaze palsy due to unilateral paramedian rostral midbrain
infarction. J Neurol 2009;256(4):664-6.
Tusa RJ, Hove MT. Ocular and oculomotor signs in Joubert syndrome. J Child
Neurol 1999;14(10):621-7.
Tyvaert L, Stojkovic T, Cuisset JM, et al. Presentation of Niemann-Pick type C
http://www.medlink.com/cip.asp?UID=mlt000t4

Pgina 13 de 14

Vertical gaze palsy

11/08/14 17:37

disease with psychiatric disturbance in an adult. Rev Neurol 2005;161:318-22.


Ushio M, Iwasaki S, Sugasawa K, Murofushi T. Atypical motor neuron disease
with supranuclear vertical gaze palsy and slow saccades. Auris Nasus Larynx
2009;26(1):85-7.
Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis 2010;3;5:16.
Vincent A, Newsom-Davies J. Anti-acetylcholine receptor antibodies. J Neurol
Neurosurg Psychiatry 1980;43:590-600.
Wiest G, Baumgartner C, Schnider P, Trattnig S, Deecke L, Mueller C. Monocular
elevation paresis and contralateral downgaze paresis from unilateral
mesodiencephalic infarction. J Neurol Neurosurg Psychiatry 1996;60:579-81.
Williams DR, de Silva R, Paviour DC, et al. Characteristics of two distinct clinical
phenotypes in pathologically proven progressive supranuclear palsy:
Richardson's syndrome and PSP-parkinsonism. Brain 2005a;128:1247-58.
Williams DR, Hadeed A, al-Din AS, Wreikat AL, Lees AJ. Kufor Rakeb disease:
autosomal recessive, levodopa-responsive parkinsonism with pyramidal
degeneration, supranuclear gaze palsy, and dementia. Mov Disord
2005b;20:1264-71.
Willison H, Veitch J, Paterson G, Kennedy P. Miller Fisher syndrome is associated
with serum antibodies to GQ1b ganglioside. J Neurol Neurosurg Psychiatry
1993;56:204-6.
Yamamoto T. [Supranuclear vertical gaze palsy: bilateral thalamo-mesencephalic
lesions demonstrated by MRI.]. Rinsho Shinkeigaku 1989;29:517-9.
Yeatts R. Graves' ophthalmopathy. Med Clin N Am 1995;79:195-209.
Zampieri C, Di Fabio RP. Improvement of gaze control after balance and eye
movement training in patients with progressive supranuclear palsy: a quasirandomized controlled trial. Arch Phys Med Rehabil 2009;90(2):263-70.
**References especially recommended by the author or editor for general
reading.

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