TY - JOUR
T1 - Retinal and pontine striations
T2 - Neurodiagnostic signs of autosomal recessive spastic ataxia of charlevoix-saguenay
AU - Leavitt, Jacqueline A.
AU - Singer, Wolfgang
AU - Brown, William L.
AU - Pulido, Jose S.
AU - Brodsky, Michael C.
N1 - Publisher Copyright:
© 2014 by North American Neuro-Ophthalmology Society.
PY - 2014/12/8
Y1 - 2014/12/8
N2 - 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.
AB - 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.
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U2 - 10.1097/WNO.0000000000000174
DO - 10.1097/WNO.0000000000000174
M3 - Article
C2 - 25237835
AN - SCOPUS:84916215103
SN - 1070-8022
VL - 34
SP - 369
EP - 371
JO - Journal of Neuro-Ophthalmology
JF - Journal of Neuro-Ophthalmology
IS - 4
ER -