familial progressive subcortical gliosis; familial dementia, Neumann type

Epidemiology: 5th & 6th decades autosomal recessive inheritance Pathology: 1) gliosis most prominent in short cortical association tracts (U fibers) at the junction of cortical lamina VI & the subcortical white matter, & in the subpial cerebral cortex. 2) atrophy - moderately severe, preferentially involving frontal & temporal lobes 3) laminar spongiosis - laminae II & III 4) no inclusions or amyloid deposits Clinical manifestations: 1) personality change/degeneration of social ability initially 2) dementia 3) mutism 4) dysphagia 5) extrapyramidal signs

General

genetic disease of the central nervous system neurodegenerative disease

References

MIM#221820