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Related Experiment Video

Updated: May 9, 2026

Using Eye-tracking to Assess the Relative Importance of Visual and Vestibular Input to Subcortical Motion Processing in the Roll Plane

Using Eye-tracking to Assess the Relative Importance of Visual and Vestibular Input to Subcortical Motion Processing in the Roll Plane

Published on: August 22, 2025

Pendular nystagmus in hypomyelinating leukodystrophy.

R Bassani¹, D Pareyson, L D'Incerti

¹Department of Neurological Sciences, Ospedale "G. Salvini", via Forlanini 121, Garbagnate Milanese, Italy; Oto-neurology Service, Fondazione Istituto Di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milano, Italy.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia

|July 13, 2013

Summary

This summary is machine-generated.

This case study highlights pendular nystagmus and ataxia as key signs of central nervous system (CNS) hypomyelination. Brain MRI confirmed hypomyelinating leukodystrophy, underscoring the diagnostic value of these clinical findings.

Keywords:

Cerebellar ataxia Hypomyelinating leukodystrophy Pelizaeus-Merzbacher disease Pendular nystagmus

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Area of Science:

Neurology
Neuroscience
Radiology

Background:

Hypomyelinating leukodystrophies are a group of rare genetic disorders characterized by impaired myelin formation in the central nervous system.
These conditions can present with a variety of neurological symptoms, often including motor and visual deficits.

Observation:

A 49-year-old woman with hypomyelinating leukodystrophy presented with characteristic pendular nystagmus and upper limb ataxia.
Pendular nystagmus, a type of involuntary eye movement, was analyzed using video-oculography.
Ataxia was assessed using the index-to-nose test, with slow-motion video employed to better visualize the movements.

Findings:

Brain magnetic resonance imaging (MRI) revealed a distinct pattern consistent with hypomyelination.
The combination of pendular nystagmus and ataxia was observed in the patient.
Video-oculography provided detailed analysis of the nystagmus, aiding in its characterization.

Implications:

Pendular nystagmus is identified as a crucial clinical indicator for diagnosing central nervous system (CNS) hypomyelination.
The findings emphasize the importance of integrating clinical neurological examination with neuroimaging for accurate diagnosis of leukodystrophies.
This case contributes to the understanding of the clinical manifestations and diagnostic markers of hypomyelinating disorders.