Mahmut Sami BİÇİMVEREN, Ata BAYTAROĞLU, Ali GÜLEN, Fahrettin DUYMUŞ
Turkish Journal of Neurology - 2026;32(2):191-197
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare hereditary cause of ataxia, in which the main clinical features include spastic gait, cerebellar ataxia, and sensorimotor polyneuropathy. Even in the absence of visual symptoms, grayish white retinal striations and retinal nerve fiber layer (RNFL) thickening on optical coherence tomography (OCT) can be detected in patients with ARSACS, acting as important diagnostic clues. Furthermore, sensorineural hearing loss can be detected on audiometry even in the absence of hearing complaints. Signal and volume alterations that provide important diagnostic clues for ARSACS can be identified on magnetic resonance imaging (MRI). Herein, we presented the multisystemic involvement of ARSACS through clinical findings, electroneuromyography, MRI, OCT, and audiometry.
