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pallidopontonigral degeneration
Etiology: mutation in microtubule associated protein tau gene
Epidemiology: onset/death usually fifth decade
Pathology:
1) neuronal loss/gliosis
a) most prominant:
1] substantia nigra
2] pontine tegmentum
3] globus pallidus
b) less prominant
1] caudate
2] putamen
2) no plaques, tangles Lewy bodies or amyloid
Clinical manifestations:
1) parkinsonism
2) dystonia
3) dementia
4) pyramidal dysfunction
5) frontal lobe release signs
6) urinary incontinence
7) ocular motility abnormalities
Radiology:
- PET: reduced striatal uptake of 6-fluoro-L-dopa
Interactions
disease interactions
General
genetic disease of the central nervous system
neurodegenerative disease
parkinson plus syndrome
Database Correlations
OMIM correlations
MORBIDMAP 157140