Pendular nystagmus in hypomyelinating leukodystrophy

Abstract We report the case of a 49-year old woman affected by hypomyelinating leukodystrophy. She presented with typical pendular nystagmus that was analyzed with video-oculography which is provided in the supplementary material of the report. The pendular nystagmus was accompanied by upper limb at...

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Bibliographic Details
Published in:Journal of clinical neuroscience 2013-10, Vol.20 (10), p.1443-1445
Main Authors: Bassani, R, Pareyson, D, D’Incerti, L, Di Bella, D, Taroni, F, Salsano, E
Format: Article
Language:English
Subjects:
Cerebellar ataxia
Female
Humans
Hypomyelinating leukodystrophy
Magnetic Resonance Imaging
Middle Aged
Neurology
Nystagmus, Pathologic - diagnosis
Nystagmus, Pathologic - etiology
Pelizaeus-Merzbacher disease
Pendular nystagmus
Spastic Paraplegia, Hereditary - complications
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Summary:Abstract We report the case of a 49-year old woman affected by hypomyelinating leukodystrophy. She presented with typical pendular nystagmus that was analyzed with video-oculography which is provided in the supplementary material of the report. The pendular nystagmus was accompanied by upper limb ataxia on the index-to-nose test. The video was partly recorded with a slow-motion technique in order to better demonstrate the ataxia and the pendular nystagmus. The brain MRI demonstrated a characteristic pattern of hypomyelination. Pendular nystagmus is a key clinical sign that contributes to the diagnosis of CNS hypomyelination when a leukodystrophic pattern is observed on brain MRI.
ISSN:0967-5868
1532-2653
DOI:10.1016/j.jocn.2012.11.014