Concept of a Lumbar Puncture being performed Because of how rare this genetic condition is an exact prognosis is still not known and varies. Some data has suggested that the median age of onset is 45 years old, but patients with onset as young as 18 years old has also been described. Further, it is believed that the median life expectancy is 6 years but is also extremely variable as it has also been reported that some patients survived up to 29 years after the onset of symptoms. While gaining a definitive prognosis for this disease studies suggest a few different techniques that may or may not benefit in getting a better prognosis for the individual patient: * Lumbar puncture to measure neurofilament light protein (NFL) in the cerebrospinal fluid (CSF) to follow the progression of the disease. An increase NFL level on CSF examinations may suggest faster disease course as well as a worse prognosis. * Longitudinal MRI studies annually can potentially also help with prognosis. This was found from another study which found that, as throughout the disease course, the more rapid the confluence of patchy or focal T2-weighted hyperintensities and the progression of cortical atrophy suggests the poorer the prognosis appears to be.
Leukoencephalopathy with neuroaxonal spheroids
Leukoencephalopathy with vanishing white matter
Megalencephalic leukoencephalopathy with subcortical cysts
Neurodegeneration with brain iron accumulation
Camel spongiform encephalopathy
Neurofibrillary tangle
Limbic-predominant age-related TDP-43 encephalopathy
Variably protease-sensitive prionopathy