Similar brain tau pathology in DM2/PROMM and DM1/Steinert disease.
Neurofibrillary degeneration (NFD) occurs in the brains of patients with myotonic dystrophy (DM) type 1. The authors report a similar tau pathology in the CNS of a patient with DM2 and compare it to that of patients with DM1. A reduced expression of tau exon 2 and exon 3 epitopes is observed in both DM1 and DM2. This suggests a similar physiopathologic process that may contribute to common neurologic features in patients with DM.
Maurage
C A
CA
INSERM U422, Faculté de Médecine, Lille, France. ca-maurage@chru-lille.fr
Udd
B
B
Ruchoux
M M
MM
Vermersch
P
P
Kalimo
H
H
Krahe
R
R
Delacourte
A
A
Sergeant
N
N
D000368:Aged; D000918:Antibody Specificity / Q000235:genetics; D001921:Brain / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology; D004252:DNA Mutational Analysis; D000939:Epitopes / Q000235:genetics / Q000276:immunology; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006624:Hippocampus / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D007150:Immunohistochemistry; D002479:Inclusion Bodies / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009223:Myotonic Dystrophy / Q000145:classification / Q000175:diagnosis* / Q000503:physiopathology; D065636:Myotonin-Protein Kinase; D016874:Neurofibrillary Tangles / Q000235:genetics / Q000276:immunology / Q000473:pathology; D009474:Neurons / Q000378:metabolism / Q000473:pathology*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics; D024801:Tauopathies / Q000145:classification / Q000175:diagnosis* / Q000503:physiopathology; D016875:tau Proteins / Q000235:genetics / Q000276:immunology / Q000378:metabolism*
C433227:CNBP protein, human; C585517:DMPK protein, human; D000939:Epitopes; D016601:RNA-Binding Proteins; D016875:tau Proteins; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases