Robert W Baloh

See Charidimou (doi:10.1093/aww253) for a scientific commentary on this article. Cerebroretinal vasculopathy, hereditary vascular retinopathy, and hereditary endotheliopathy, retinopathy, nephropathy and stroke are neurovascular syndromes initially described as distinct entities. Recently they were shown to be one disease caused by C-terminal frame-shift mutations in TREX1, which was termed ‘retinal vasculopathy with cerebral leukodystrophy’. Here we defined the genetic and ...

The mechanisms controlling axon guidance are of fundamental importance in understanding brain development. Growing corticospinal and somatosensory axons cross the midline in the medulla to reach their targets and thus form the basis of contralateral motor control and sensory input. The motor and sensory projections appeared uncrossed in patients with horizontal gaze palsy with progressive scoliosis (HGPPS). In patients affected with HGPPS, we identified mutations in the ROBO3 gene, which ...

OBJECTIVES: To assess whether patient age or sex was predictive of a bilaterally absent cervical or ocular vestibular evoked myogenic potential (cVEMP or oVEMP).

STUDY DESIGN: Retrospective case review.

SETTING: Tertiary center.

PATIENTS: Patients presenting with normal vestibular tests (i.e. normal caloric and rotational chair) who underwent cVEMP and/or oVEMP testing. Patients with conductive hearing loss were excluded as were those with unilaterally abnormal VEMP results because they ...

Six patients with a distinct syndrome of persistent sensations of imbalance are presented. Common features included onset following a period of motion exposure, symptoms lasting months to years, mild unsteadiness and anxiety, minimal relief from antivertiginous medication, and normal neurologic and quantitative vestibulo-ocular examinations. One patient experienced recurrent episodes. Mal de debarquement refers to sensations of motion experienced on return to stable land after adaptation ...

There are multiple tests for the detection and diagnosis of increased lead absorption, but one test from each of two major categories excels as being most useful at the present time. These are blood lead concentration and free erythrocyte porphyrin (FEP) concentration. The blood lead test gives a measure of the dynamic body lead pool while the FEP test gives a sensitive measurement of tissue metabolic effect of increased lead absorption. Use of these tests in conjunction provides not ...

Eye movements were studied in a sister and brother with familial, congenital paralysis of horizontal gaze. Horizontal and vertical eye movements were recorded with DC electro-oculography and analyzed with a laboratory computer. All horizontal, conjugate eye movements were absent (saccades, pursuit, optokinetic nystagmus, vestibulo-ocular response, and visual-vestibular responses). Voluntary vergence eye movements were preserved and were used to track visual targets. An involuntary, ...

ABSTRACT Patients with an acute unilateral peripheral vestibular loss present with severe vertigo, nausea, and vomiting. The diagnosis rests on finding spontaneous nystagmus (horizontal/torsional, unidirectional), gait imbalance (falling toward the side of lesion) and a positive head thrust sign (corrective saccades after head thrusts toward the lesion side). When no associated auditory or neurological symptoms and signs are present, the disorder usually results from viral or postviral ...