BACKGROUND: Downbeat nystagmus is the most-common type of central nystagmus. However, no published study has attempted to analyze the etiology and clinical features of downbeat nystagmus in a large sample of Korean patients. METHODS: We analyzed the demographic and clinical features of spontaneous downbeat nystagmus in 218 Korean patients who had been evaluated at the Dizziness Clinic of Seoul National University Bundang Hospital from 2003 to 2014. RESULTS: All patients were aged from 15 to 92 years (mean+/-SD: 58.7+/-18.0 years), and they included 117 (53.7%) men. Underlying causes were found in 162 patients (74.3%, secondary group), while no etiology was identified in the remaining patients (idiopathic group). The age and sex distributions did not differ between the idiopathic and secondary groups. The underlying etiology included hereditary disorders (n=48, 22.0%), vascular diseases (n=46, 21.1%), and inflammatory diseases (n=19, 8.7%). Infarctions (n=34, 15.6%) and episodic ataxia (n=32, 14.7%) were the most-frequent underlying disorders. The most-common site of lesions identified by MRI was the cerebellum (68.9%), followed by the brainstem (28.6%). Among the 74 patients with lesions confirmed by MRI, 25 (33.7%) showed an isolated cerebellar involvement, while 35 (47.6%) had lesions in multiple areas. CONCLUSIONS: This study extends the clinical features of spontaneous downbeat nystagmus to Korean patients. Cerebellum is the most-common lesion site, which is consistent with the results of previous studies. The prevalence of Arnold-Chiari malformation is relatively low, which may be a distinct finding relative to those of previous studies involving other ethnic populations.
Arnold-Chiari Malformation ; Ataxia ; Brain Stem ; Cerebellum ; Dizziness ; Humans ; Infarction ; Magnetic Resonance Imaging ; Male ; Prevalence ; Seoul ; Sex Distribution ; Vascular Diseases ; Vertigo

No abstract available.
Acidosis, Lactic* ; Epilepsy*

Vestibular Paroxysmia and facial spasm may be caused by vascular compression of the vestibular and facial root entry zone. We report a case of paroxysmal nystagmus accompanied by facial spasm and which is well visualized by three-dimensional reconstruction images. The 3-dimensional reconstruction image supports the view that vestibular paroxysmia may occur with hemifacial spasm simultaneously due to vascular compression.
Hemifacial Spasm ; Spasm

Abnormal eye movements are commonly observed in movement disorders. Ocular motility examination should include bedside evaluation and laboratory recording of ocular misalignment, involuntary eye movements, including nystagmus and saccadic intrusions/oscillations, triggered nystagmus, saccades, smooth pursuit (SP), and the vestibulo-ocular reflex. Patients with Parkinson's disease (PD) mostly show hypometric saccades, especially for the self-paced saccades, and impaired SP. Early vertical saccadic palsy is characteristic of progressive supranuclear palsy-Richardson's syndrome. Patients with cortico-basal syndrome typically show a delayed onset of saccades. Downbeat and gaze-evoked nystagmus and hypermetric saccades are characteristic ocular motor findings in ataxic disorders due to cerebellar dysfunction. In this review, we discuss various ocular motor findings in movement disorders, including PD and related disorders, ataxic syndromes, and hyperkinetic movement disorders. Systemic evaluation of the ocular motor functions may provide valuable information for early detection and monitoring of movement disorders, despite an overlap in the abnormal eye movements among different movement disorders.
Ataxia ; Cerebellar Diseases ; Eye Movements ; Humans ; Hyperkinesis ; Movement Disorders ; Paralysis ; Parkinson Disease ; Parkinsonian Disorders ; Pursuit, Smooth ; Reflex, Vestibulo-Ocular ; Saccades

Rotatory vertebral artery syndrome (RVAS) is characterized by recurrent attacks of vertigo, nystagmus, and syncope induced by compression of the vertebral artery during head rotation. A 60-year-old man with atlas vertebrae fracture presented recurrent attacks of positional vertigo. Left-beat, upbeat and count clock-wise torsional nystagmus occurred after lying down and bilateral head roll (HR) showing no latency or fatigue. Magnetic resonance imaging revealed foramen magnum stenosis (FMS) and dominancy of right vertebral artery (VA). The flow of the right VA on transcranial Doppler decreased significantly during left HR. The slower the velocity was, the more the nystagmus was aggravated. RVAS can be evoked by FMS causing compression of the VA. And the nystagmus might be aggravated according to the blood flow insufficiency.
Constriction, Pathologic ; Deception ; Fatigue ; Foramen Magnum ; Head ; Humans ; Magnetic Resonance Imaging ; Middle Aged ; Spine ; Syncope ; Vertebral Artery ; Vertigo

No abstract available.
Ammonium Compounds* ; Epilepsy ; Poisoning* ; Status Epilepticus*

Familial amyloidotic polyneuropathy (FAP) is a rare hereditary amyloidosis that is characterized by slowly progressive peripheral polyneuropathy with other systemic involvement. More than 100 amyloidogenic transthyretin gene mutations have been reported, mainly in endemic areas of Portugal, Japan, and Sweden. We describe two brothers who exhibited progressive painful sensorimotor polyneuropathy with autonomic dysfunction. Gene analysis revealed a heterozygous Asp38Ala substitution in the transthyretin gene; this represents the first reported case of FAP in Korea.
Amyloidosis ; Amyloidosis, Familial ; Humans ; Japan ; Korea ; Polyneuropathies ; Portugal ; Prealbumin ; Siblings ; Sweden