familial progressive subcortical gliosis; familial dementia, Neumann type

Epidemiology

5th & 6th decades autosomal recessive inheritance

Pathology

• 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.
• atrophy - moderately severe, preferentially involving frontal & temporal lobes
• laminar spongiosis - laminae II & III
• no inclusions or amyloid deposits

Clinical manifestations

• personality change/degeneration of social ability initially
• dementia
• mutism
• dysphagia
• extrapyramidal signs

More general terms

• neurodegenerative disease
• genetic disease of the central nervous system

Database

• OMIM: https://mirror.omim.org/entry/221820