In This Issue

Extract

Possible role of pBRCA1 cytoplasmic sequestration in Lewy body disease (LBD) pathogenesis

Nakamura et al used immunohistochemistry to compare the expression of BRCA1, BRCA1, BARD1, and 53BP1 in pure LBD, LBD-Alzheimer disease (AD) co-pathology, and controls. pBRCA1 was mislocalized in the cytoplasm of neurons in LBD and LBD-AD and colocalized with α−synuclein. The findings suggest that DNA repair dysfunction due to cytoplasmic sequestration of pBRCA1 may play a role in LBD pathogenesis.

 page 276

EIF4G1 mutation, α-synuclein and Parkinson disease (PD)

Braccia et al describe the findings of α-synuclein accumulation in the olfactory bulbs but not the skin in two family members with autosomal dominant PD caused by an EIF4G1 mutation (PARK18). The clinical phenotype was characterized by mild motor symptoms with hyposomnia. This suggests that PARK18 can manifest as a “benign” form of PD with slow progression and little or no peripheral nervous system pathology.

 page 286

TDP-43-POSITIVE hippocampal sclerosis of aging (HS-A)-like degeneration in aged mice