Common brain magnetic resonance signature in adaptor protein complex 4 associated hereditary spastic paraplegia

Takeaway

  • Brain magnetic resonance imaging reveals adaptor protein complex 4 (AP-4)-associated hereditary spastic paraplegia to be a disorder that affects both gray and white matter.

Why this matters

    AP-4-associated hereditary spastic paraplegia is a complex hereditary spastic paraplegia which can be difficult to differentiate from cerebral palsy. This is the first systematic analysis of brain imaging characteristics in this type of paraplegia, and the findings reveal distinctive shared characteristics. Being able to use magnetic resonance imaging to differentiate between the two conditions would facilitate early diagnosis and help to identify people at risk for more severe manifestations, such as status epilepticus.