Familial multiple system tauopathy with presenile dementia: A disease with abundant neuronal and glial tau filaments
AUTOR(ES)
Spillantini, Maria Grazia
FONTE
The National Academy of Sciences of the USA
RESUMO
Neurofibrillary lesions made of hyperphosphorylated microtubule-associated protein tau constitute not only one of the defining neuropathological features of Alzheimer disease but also are present in a number of other neurodegenerative diseases with dementia. Here we describe a novel autosomal dominant disease named familial “multiple system tauopathy with presenile dementia,” which is characterized by abundant fibrillary deposits of tau protein in both neurons and glial cells. There are no detectable deposits of β-amyloid. The tau deposits are in the form of twisted filaments that differ in diameter and periodicity from the paired helical filaments of Alzheimer disease. They are stained by both phosphorylation-independent and -dependent anti-tau antibodies. Moreover, tau immunoreactivity coexists with heparan sulfate in affected nerve and glial cells. Tau protein extracted from filaments of familial multiple system tauopathy with presenile dementia shows a minor 72-kDa band and two major bands of 64 and 68 kDa that contain mainly hyperphosphorylated four-repeat tau isoforms of 383 and 412 amino acids.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=20577Documentos Relacionados
- Mutation in the tau gene in familial multiple system tauopathy with presenile dementia
- FAMILIAL PRESENILE DEMENTIA: REPORT OF CASE WITH CLINICAL AND PATHOLOGICAL FEATURES OF ALZHEIMER'S DISEASE
- Familial Presenile Dementia with Spastic Paralysis*
- Non-specific familial presenile dementia.
- Organic solvents and presenile dementia: a case referent study using death certificates.