Familial encephalopathy with neuroserpin inclusion bodies

Definition:

Familial encephalopathy with neuroserpin inclusion bodies (FEBIB) is an autosomal dominant dementia that is characterized by the accumulation of mutant neuroserpin as periodic acid Schiff (PAS) positive diastase-resistant inclusions. Kindreds with FENIB present with presenile dementia and cognitive deficits.

References:

[1]. Didier Belorgey, et al. Mutant Neuroserpin (S49P) that causes familial encephalopathy with neuroserpin inclusion bodies is a poor proteinase inhibitor and readily forms polymers in vitro. J Biol Chem. 2002 May 10;277(19):17367-73. [Content Brief]

[2]. Didier Belorgey, et al. Protein misfolding and the serpinopathies. Prion. 2007 Jan-Mar;1(1):15-20. [Content Brief]

[3]. R L Davis, et al. Familial dementia caused by polymerization of mutant neuroserpin. Nature. 1999 Sep 23;401(6751):376-9. [Content Brief]

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