SCA27B is a late adult-onset and slowly progressive ataxia that most often starts after the age of 50 years. The disease often begins with walking impairment. Individuals may also develop hand incoordination and speech disturbance. While some individual may eventually require assistance with mobility (i.e. cane or walking sticks), the use of a wheelchair is uncommon even after prolonged disease duration. Swallowing difficulties are uncommon but may occur.
Nearly 50% of individuals may first experience episodic or paroxysmal manifestations, including gait imbalance, hand incoordination, speech disturbance, visual disturbances (double vision, bouncy vision, blurring), and vertigo and/or dizziness. These symptoms may predate the onset of permanent gait impairment by several years and may be precipitated by alcohol intake, physical activity, or caffeine.
Patients may less commonly experience leg stiffness, tremor of the arms, urinary urgency, and sensory symptoms (tingling, pins and needles) in the lower extremities.
FGF14