A Comparative Optical Coherence Tomography Study of Spinocerebellar Ataxia Types 3 and 10

Abstract

SCA3 presents with a CAG expansion at 14q24.3-q32 while SCA10 shows an ATTCT expansion at 22q13-qter. SCA10 seems to be less aggressive than SCA3. For an in vivo, noninvasive approach of the correlation between central nervous system and clinical evolution, we can use optic coherence tomography (OCT) to measure retinal nerve fiber (RNFL) and ganglion cell layer (GCL) thickness. To describe OCT findings in SCA10, correlate it with expansion size and disease severity and compare with those of SCA3. We analyzed ten individuals with SCA3 and nine with SCA10 recruited from the neurology service of Hospital de Clínicas of Paraná—Brazil. They were submitted to OCT and clinical evaluation using SARA score. Expansion size, demographic data, time from disease onset, and age of onset were collected. We found no correlation between size of expansion, SARA, and RNFL or GCL thickness in SCA10. RNFL seemed to be thicker in SCA10 (p > 0.05). GCL thickness, SARA, median age, and time from disease onset did not differ between groups. SCA10 individuals had an earlier disease onset. In SCA3, there was a negative correlation between SARA and RNFL thickness in nasal area. To the best of our knowledge, this is the first paper assessing retinal changes by OCT in individuals with SCA10. The lack of correlation between disease progression, age, and time since onset supports the anatomopathological findings which suggest SCA10 is less aggressive than other SCAs. The findings in SCA3 are in accordance with the literature.