Case series: Downbeat nystagmus in SCA27B

Spinocerebellar ataxia (SCA) 27B, first reported in late 2022, is caused by the abnormal expansion of GAA repeats in the first intron of the FGF14 gene, which encodes the fibroblast growth factor 14. We present two late-onset cases, each manifesting mild cerebellar ataxia accompanied by omnidirectional downbeat nystagmus, which was enhanced in a suspended head position. None of the patients exhibited impaired head impulse or caloric tests. Repeat-primed PCR and targeted long-read nanopore sequence analysis of the FGF14 GAA repeat site identified more than 250 repeats, leading to the diagnosis of SCA27B. Downbeat nystagmus is reported to be associated with disturbances in the suppression of the vestibulo-ocular reflex (VOR). Our patients with SCA27B demonstrated downbeat nystagmus, likely due to a disruption of the VOR at the level of the cerebellar cortex, a potentially characteristic clinical feature of SCA27B. We have included video footages of eye movements recorded using Frenzel goggles for these cases. Omnidirectional downbeat nystagmus may be a distinctive clinical feature of SCA27B. •We report 2 cases of SCA27B accompanied by omnidirectional downbeat nystagmus.•Omnidirectional downbeat nystagmus emerges as potential distinctive marker for SCA27B diagnosis.•We present utilizing Frenzel goggles captures characteristic eye movements, validating downbeat nystagmus in SCA27B.