Infantile PLAN symptoms start in the first 2 years of life, progress fairly rapidly and include:
• Psychomotor regression or delay
• Initial truncal hypotonia evolving to spastic quadriplegia
• Optic atrophy, strabismus and/or nystagmus
• Bulbar dysfunction
• Seizures
• Cognitive decline
Juvenile PLAN symptoms start in early childhood, progress more slowly than infantile PLAN, and include:
• Speech delay and autistic features
• Psychomotor regression
• Dystonia
• Dysarthria
• Spasticity
• Joint contractures
• Optic atrophy, strabismus and nystagmus
• Seizures
Adult PLAN starts in late teens-early adulthood, progresses more slowly than in infantile PLAN, and includes:
• Parkinsonism
• Gait disturbance
• Dystonia
• Dysarthria
• Cognitive regression
• Neuropsychiatric changes
PLA2G6