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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
- Diagnostic workup
- Prognosis and
complications
- Management
- Pregnancy
- Anesthesia
- ICD codes
- OMIM
Supplemental Content
- Associated disorders
- Related summaries
- Differential diagnosis
- Demographics
References
- References cited
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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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
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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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Clinical manifestations
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Clinical vignette
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Etiology
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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).
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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Epidemiology
Not applicable.
Prevention
Not applicable.
Differential diagnosis
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Diagnostic workup
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
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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Associated disorders
Ataxia-telangiectasia
Progressive supranuclear palsy
Related summaries
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
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