Central ocular motor disorders, including gaze palsy and nystagmus

Abstract

An impairment of eye movements, or nystagmus, is seen in many diseases of the central nervous system, in particular those affecting the brainstem and cerebellum, as well as in those of the vestibular system. The key to diagnosis is a systematic clinical examination of the different types of eye movements, including: eye position, range of eye movements, smooth pursuit, saccades, gaze-holding function and optokinetic nystagmus, as well as testing for the different types of nystagmus (e.g., central fixation nystagmus or peripheral vestibular nystagmus). Depending on the time course of the signs and symptoms, eye movements often indicate a specific underlying cause (e.g., stroke or neurodegenerative or metabolic disorders). A detailed knowledge of the anatomy and physiology of eye movements enables the physician to localize the disturbance to a specific area in the brainstem (midbrain, pons or medulla) or cerebellum (in particular the flocculus). For example, isolated dysfunction of vertical eye movements is due to a midbrain lesion affecting the rostral interstitial nucleus of the medial longitudinal fascicle, with impaired vertical saccades only, the interstitial nucleus of Cajal or the posterior commissure; common causes with an acute onset are an infarction or bleeding in the upper midbrain or in patients with chronic progressive supranuclear palsy (PSP) and Niemann–Pick type C (NP-C). Isolated dysfunction of horizontal saccades is due to a pontine lesion affecting the paramedian pontine reticular formation due, for instance, to brainstem bleeding, glioma or Gaucher disease type 3; an impairment of horizontal and vertical saccades is found in later stages of PSP, NP-C and Gaucher disease type 3. Gaze-evoked nystagmus (GEN) in all directions indicates a cerebellar dysfunction and can have multiple causes such as drugs, in particular antiepileptics, chronic alcohol abuse, neurodegenerative cerebellar disorders or cerebellar ataxias; purely vertical GEN is due to a midbrain lesion, while purely horizontal GEN is due to a pontomedullary lesion. The pathognomonic clinical sign of internuclear ophthalmoplegia is an impaired adduction while testing horizontal saccades on the side of the lesion in the ipsilateral medial longitudinal fascicule. The most common pathological types of central nystagmus are downbeat nystagmus (DBN) and upbeat nystagmus (UBN). DBN is generally due to cerebellar dysfunction affecting the flocculus bilaterally (e.g., due to a neurodegenerative disease). Treatment options exist for a few disorders: miglustat for NP-C and aminopyridines for DBN and UBN. It is therefore particularly important to identify treatable cases with these conditions.

Pearls & Oy-sters: Ocular motor apraxia as essential differential diagnosis to supranuclear gaze palsy

“…OA points to a dysfunction in the area of the frontal eye fields (voluntary saccade initiation). 5 Additional dysfunction in the parietal eye fields may eventually impair initiation of reflexive saccades, as in our patient. 5 In contrast, SGP originates from dysfunction of supranuclear centers of gaze control (i.e., the interstitial nucleus of Cajal and rostral interstitial nucleus of the medial longitudinal fasciculus in the midbrain, and the paramedian pontine reticular formation).…”

“…The patient's ability to trigger conjugated eye movement by imagination or initiation of head movement allowed us to classify his ocular motor deficit as OA. [3][4][5] OA can occur in inherited diseases, e.g., in congenital ataxia with OA and in ataxia teleangiectasia.…”

“…4,5 Pathophysiologically, the initiation deficit of intentional saccades points to a lesion of the frontal eye fields. 5 The patient's inability to initiative reflexive saccades is uncommon for OA in the strict sense and indicates a more extensive lesion involving also the parietal eye field.…”

“…5 In contrast, SGP originates from dysfunction of supranuclear centers of gaze control (i.e., the interstitial nucleus of Cajal and rostral interstitial nucleus of the medial longitudinal fasciculus in the midbrain, and the paramedian pontine reticular formation). 5 The cortical predominance of neurodegeneration was demonstrated in our patient by MRI and […”

“…[3][4][5] Several examinations studied possible primary causes of his condition. 2 All blood laboratory tests were normal, including serum levels of vitamin B 12 and parathyroid hormone.…”