title: 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 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.
authors.affiliation: Department 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. Electronic address: rdbass@libero.it.
authors.forename: R
authors.initials: R
authors.lastname: Bassani
authors.forename: D
authors.initials: D
authors.lastname: Pareyson
authors.forename: L
authors.initials: L
authors.lastname: D'Incerti
authors.forename: D
authors.initials: D
authors.lastname: Di Bella
authors.forename: F
authors.initials: F
authors.lastname: Taroni
authors.forename: E
authors.initials: E
authors.lastname: Salsano
mesh_terms: D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009759:Nystagmus, Pathologic / Q000175:diagnosis / Q000209:etiology*; D015419:Spastic Paraplegia, Hereditary / Q000150:complications*; D014741:Video Recording
keywords: Cerebellar ataxia; Hypomyelinating leukodystrophy; Pelizaeus-Merzbacher disease; Pendular nystagmus