Neurological manifestations
• Childhood or adolescent onset is typical; adult onset is less common.
• Slowly progressive gait difficulty caused by spasticity and weakness of the lower limbs.
• Hyperreflexia and positive Babinski sign.
• Some individuals may present mild sensory symptoms.
• Rare reports of ataxia or upper-limb involvement.
• Cognitive function is usually preserved.
• Urinary dysfunction has been reported in some patients.
• Mild peripheral neuropathy may occur, although infrequently.
No consistent extra-neurological manifestations have been reported to date.
UBAP1