Diagnostic Optic Nerve Features in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Jenny L. Hepschke; Yusuf Ali Rajabally; Susan P. Mollan

doi:10.1001/jamaneurol.2022.3961

Diagnostic Optic Nerve Features in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Jenny L. Hepschke^*, Yusuf Ali Rajabally, Susan P. Mollan

^*Corresponding author for this work

College of Health and Life Sciences

University Hospitals Birmingham NHS Foundation Trust

Research output: Contribution to journal › Review article › peer-review

2 Citations (Scopus)

Abstract

A 23-year-old man was referred to neuro-ophthalmology for gaze-evoked nystagmus. He had been evaluated for lower-limb incoordination due to a history of slowly progressive walking difficulty since childhood. He had asthma and eczema and no prior ophthalmic history. Magnetic resonance imaging (MRI) of his brain revealed cerebellar vermis atrophy.

Original language	English
Pages (from-to)	104-106
Number of pages	3
Journal	JAMA neurology
Volume	80
Issue number	1
DOIs	https://doi.org/10.1001/jamaneurol.2022.3961
Publication status	Published - 14 Nov 2022

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title = "Diagnostic Optic Nerve Features in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay",

abstract = "A 23-year-old man was referred to neuro-ophthalmology for gaze-evoked nystagmus. He had been evaluated for lower-limb incoordination due to a history of slowly progressive walking difficulty since childhood. He had asthma and eczema and no prior ophthalmic history. Magnetic resonance imaging (MRI) of his brain revealed cerebellar vermis atrophy.",

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PY - 2022/11/14

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N2 - A 23-year-old man was referred to neuro-ophthalmology for gaze-evoked nystagmus. He had been evaluated for lower-limb incoordination due to a history of slowly progressive walking difficulty since childhood. He had asthma and eczema and no prior ophthalmic history. Magnetic resonance imaging (MRI) of his brain revealed cerebellar vermis atrophy.

AB - A 23-year-old man was referred to neuro-ophthalmology for gaze-evoked nystagmus. He had been evaluated for lower-limb incoordination due to a history of slowly progressive walking difficulty since childhood. He had asthma and eczema and no prior ophthalmic history. Magnetic resonance imaging (MRI) of his brain revealed cerebellar vermis atrophy.

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Diagnostic Optic Nerve Features in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Abstract

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