Increased prevalence of granulovacuolar ...
Document type :
Article dans une revue scientifique: Article original
PMID :
Permalink :
Title :
Increased prevalence of granulovacuolar degeneration in c9orf72 mutation
Author(s) :
Riku, Yuichi [Auteur]
Duyckaerts, Charles [Auteur]
Boluda, Susana [Auteur]
Plu, Isabelle [Auteur]
Le Ber, Isabelle [Auteur]
Millecamps, Stephanie [Auteur]
Salachas, Francois [Auteur]
Yoshida, Mari [Auteur]
Ando, Takashi [Auteur]
Katsuno, Masahisa [Auteur]
Sobue, Gen [Auteur]
Seilhean, Danielle [Auteur]
Duyckaerts, Charles [Auteur]
Boluda, Susana [Auteur]
Plu, Isabelle [Auteur]
Le Ber, Isabelle [Auteur]
Millecamps, Stephanie [Auteur]
Salachas, Francois [Auteur]
Yoshida, Mari [Auteur]
Ando, Takashi [Auteur]
Katsuno, Masahisa [Auteur]
Sobue, Gen [Auteur]
Seilhean, Danielle [Auteur]
Journal title :
Acta neuropathologica
Abbreviated title :
Acta Neuropathol.
Publication date :
2019-05-29
ISSN :
1432-0533
Keyword(s) :
Dipeptide repeat
Granulovacuolar degeneration
TDP-43
ALS
C9orf72
FTLD
Granulovacuolar degeneration
TDP-43
ALS
C9orf72
FTLD
HAL domain(s) :
Sciences du Vivant [q-bio]
English abstract : [en]
Granulovacuolar degeneration (GVD) is usually found in Alzheimer's disease (AD) cases or in elderly individuals. Its severity correlates positively with the density of neurofibrillary tangles (NFTs). Mechanisms underlying ...
Show more >Granulovacuolar degeneration (GVD) is usually found in Alzheimer's disease (AD) cases or in elderly individuals. Its severity correlates positively with the density of neurofibrillary tangles (NFTs). Mechanisms underlying GVD formation are unknown. We assessed the prevalence and distribution of GVD in cases with TDP-43-related frontotemporal lobar degeneration (FTLD-TDP) and amyotrophic lateral sclerosis (ALS-TDP). Consecutively autopsied cases with FTLD/ALS-TDP and C9orf72 mutations (FTLD/ALS-C9; N = 29), cases with FTLD/ALS-TDP without C9orf72 mutations (FTLD/ALS-nonC9; N = 46), and age-matched healthy controls (N = 40) were studied. The prevalence of GVD was significantly higher in the FTLD/ALS-C9 cases (26/29 cases) than in the FTLD/ALS-nonC9 cases (15/46 cases; Fisher exact test; p < 2×10-6-6Show less >
Show more >Granulovacuolar degeneration (GVD) is usually found in Alzheimer's disease (AD) cases or in elderly individuals. Its severity correlates positively with the density of neurofibrillary tangles (NFTs). Mechanisms underlying GVD formation are unknown. We assessed the prevalence and distribution of GVD in cases with TDP-43-related frontotemporal lobar degeneration (FTLD-TDP) and amyotrophic lateral sclerosis (ALS-TDP). Consecutively autopsied cases with FTLD/ALS-TDP and C9orf72 mutations (FTLD/ALS-C9; N = 29), cases with FTLD/ALS-TDP without C9orf72 mutations (FTLD/ALS-nonC9; N = 46), and age-matched healthy controls (N = 40) were studied. The prevalence of GVD was significantly higher in the FTLD/ALS-C9 cases (26/29 cases) than in the FTLD/ALS-nonC9 cases (15/46 cases; Fisher exact test; p < 2×10-6-6Show less >
Language :
Anglais
Audience :
Internationale
Popular science :
Non
Administrative institution(s) :
CHU Lille
Inserm
Université de Lille
Inserm
Université de Lille
Collections :
Research team(s) :
Alzheimer et Tauopathies
Développement et plasticité du cerveau neuro-endocrine
Développement et plasticité du cerveau neuro-endocrine
Submission date :
2021-06-23T13:43:54Z