pallidopontonigral degeneration

Etiology

mutation in microtubule associated protein tau gene

Epidemiology

onset/death usually fifth decade

Pathology

• neuronal loss/gliosis
  • most prominant:
    • substantia nigra
    • pontine tegmentum
    • globus pallidus
  • less prominant
    • caudate
    • putamen
• no plaques, tangles Lewy bodies or amyloid

Clinical manifestations

• parkinsonism
• dystonia
• dementia
• pyramidal dysfunction
• frontal lobe release signs
• urinary incontinence
• ocular motility abnormalities

Radiology

• PET: reduced striatal uptake of 6-fluoro-L-dopa

More general terms

• parkinson plus syndrome
• neurodegenerative disease
• genetic disease of the central nervous system

Database

• OMIM: https://mirror.omim.org/entry/168610
• OMIM: https://mirror.omim.org/entry/157140