OBJECTIVE To improve diagnostic assessment in Moebius syndrome by (1) creating more selective diagnostic subgroups and (2) conducting genetic evaluation in a large patient cohort. DESIGN Prospective, observational study. PARTICIPANTS Attendees of 3 consecutive Moebius syndrome conferences held in the United States, with a prior diagnosis of Moebius syndrome, were invited to participate. M...

PURPOSE Downbeat nystagmus (DBN) is a typical ocular motor sign in patients with lesions of the vestibulocerebellum. A vertical vestibular tone asymmetry, an upward shift of the eyes' null position for vertical gaze holding, or an imbalance of vertical smooth-pursuit signals have been proposed as mechanisms of DBN. The purpose of this study was to elaborate a possible link between an imbalance ...

BACKGROUND Chronic neuronopathic Gaucher's disease type 3 (GD3) is relatively frequent in northern Sweden. Besides multiple other neurological symptoms, horizontal gaze palsy or oculomotor apraxia is common in GD3. OBJECTIVE To characterize the saccades in patients with Norrbottnian GD3 with respect to their neurological and cognitive status using a computer-based eye-tracking technique. ME...

BACKGROUND AND AIM Early clinical diagnosis of progressive supranuclear palsy (PSP) remains challenging. AIM We attempted to identify any sign or symptom to diagnose PSP earlier. METHODS A total of 401 patients, 40 with PSP and 361 with other neurodegenerative disorders, were included. We followed these patients for at least 1 year since 2009. We reviewed the signs and symptoms of patients ...

Congenital facial weakness is present in a heterogeneous group of conditions. Among them is Moebius syndrome, which has been defined as a disorder with congenital, non-progressive facial weakness and limited abduction of one or both eyes. It is typically attributed to agenesis of the abducens and facial cranial nerves. This paper details ocular motor findings of 40 subjects (23 months to 64 yea...

Truncal contrapulsion in association with pretectal syndrome has not been described previously. We report a patient with vertical-gaze palsy and severe truncal contrapulsion due to an infarction in the mesodiencephalic junction. Truncal contrapulsion in this patient may have resulted from the disruption of the ascending fibers in the crossed cerebellothalamic tract.

Thalamic infarcts presenting predominantly with psychiatric manifestations are rather uncommon. They usually have a constellation of neurological and psychiatric symptoms involving altered consciousness, vertical gaze palsy, motor and sensory symptoms with cognitive deficits involving memory. A middle-aged male with Bilateral Thalamic infarct who presented with prominent delusions and cognitive...

To cite: Liao B, Rodriguez RM, Metrus NR, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2015209392 DESCRIPTION A 62-year-old right-handed Caucasian man with hypertension, diabetes and alcoholic fatty liver presented with sudden onset double vision. Physical examination on admission was inward and downward deviation of the left eye, obvious on forward gaze...

Objectives To evaluate the function of the oculomotor and vestibular systems and to correlate these findings with the clinical status of patients with Gaucher disease type 3 (GD3). The goal of this cross-sectional and longitudinal study was to find oculomotor biomarkers for future clinical trials. Methods Twenty-six patients with GD3 were assessed for eligibility and 21 were able to perform a...