Cognitive Deficits Associated With a Recently Reported Familial Neurodegenerative Disease: Familial Encephalopathy With Neuroserpin Inclusion Bodies

• Published in: Archives of neurology (Chicago) Vol. 58; no. 9; pp. 1429 - 1434
• Main Authors: Bradshaw, Charles B, Davis, Richard L, Shrimpton, Antony E, Holohan, Peter D, Rea, Cornelia B, Fieglin, David, Kent, Paul, Collins, George H
• Format: Journal Article
• Language: English
• Published: Chicago, IL American Medical Association 01.09.2001
• Subjects: Adult; Biological and medical sciences; Cognition Disorders - diagnostic imaging; Cognition Disorders - genetics; Cognition Disorders - pathology; Disorders of higher nervous function. Focal brain diseases. Central vestibular syndrome and deafness. Brain stem syndromes; Electroencephalography; Family Health; Female; Heredodegenerative Disorders, Nervous System - diagnostic imaging; Heredodegenerative Disorders, Nervous System - genetics; Heredodegenerative Disorders, Nervous System - pathology; Humans; Inclusion Bodies - pathology; Magnetic Resonance Imaging; Male; Medical sciences; Middle Aged; Nervous system (semeiology, syndromes); Neurology; Neuropeptides - genetics; Neuropsychological Tests; Neuroserpin; Point Mutation; Serpins - genetics; Tomography, Emission-Computed, Single-Photon; Radionuclide study; Cognitive disorder; Electroencephalography; Genetic determinism; Electrodiagnosis; Encephalopathy; Adult; Inclusion body; Diagnosis; Neurological disorder; Human; Nervous system diseases; Serine endopeptidases; Enzyme; Family study; Nuclear magnetic resonance imaging; Photon; Cerebral disorder; Genetic disease; Peptidases; Phenotype; Central nervous system disease; Hydrolases; Medical imagery; Mutation; Protease inhibitor; Emission tomography

BACKGROUND We recently discovered an autosomal dominant disease causing a progressive dementia. The disease is caused by a point mutation in the gene coding for the serine protease inhibitor (ie, serpin) neuroserpin. The mutation results in an unstable neuroserpin protein that readily aggregates int...