Retinal and pontine striations: Neurodiagnostic signs of autosomal recessive spastic ataxia of charlevoix-saguenay

Jacqueline A. Leavitt, Wolfgang Singer, William L. Brown, Jose S Pulido, Michael C Brodsky

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

A 39-year-old man with long-standing ataxia, spasticity, dysarthria, and peripheral neuropathy was found to have diffuse thickening of the retinal nerve fiber layer in both eyes, as manifested by prominent retinal striations and confirmed by optical coherence tomography. Magnetic resonance imaging showed severe atrophy of the superior cerebellar vermis with linear "footprint" hypointensities in the pons with irregular striations. Genetic testing confirmed the diagnosis of spastic ataxia of Charlevoix-Saguenay (AR-SACS). The clinical evaluation of progressive cerebellar ataxia should include a dedicated search for retinal nerve fiber layer thickening, which establishes the diagnosis of ARSACS.

Original languageEnglish (US)
Pages (from-to)369-371
Number of pages3
JournalJournal of Neuro-Ophthalmology
Volume34
Issue number4
DOIs
StatePublished - Dec 8 2014

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Nerve Fibers
Dysarthria
Cerebellar Ataxia
Pons
Optical Coherence Tomography
Genetic Testing
Peripheral Nervous System Diseases
Ataxia
Atrophy
Magnetic Resonance Imaging
Spastic ataxia Charlevoix-Saguenay type
Cerebellar Vermis

ASJC Scopus subject areas

  • Clinical Neurology
  • Ophthalmology

Cite this

Retinal and pontine striations : Neurodiagnostic signs of autosomal recessive spastic ataxia of charlevoix-saguenay. / Leavitt, Jacqueline A.; Singer, Wolfgang; Brown, William L.; Pulido, Jose S; Brodsky, Michael C.

In: Journal of Neuro-Ophthalmology, Vol. 34, No. 4, 08.12.2014, p. 369-371.

Research output: Contribution to journalArticle

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