An autopsy report of a familial amyotrophic lateral sclerosis case carrying VCP Arg487His mutation with a unique TDP43 proteinopathy

2021 ◽  
Author(s):  
Tomoyasu Matsubara ◽  
Yuishin Izumi ◽  
Masaya Oda ◽  
Masatoshi Takahashi ◽  
Hirofumi Maruyama ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Familial Amyotrophic Lateral Sclerosis ◽  
Amyotrophic Lateral Sclerosis Case ◽  
Autopsy Report ◽  
Lateral Sclerosis

scholarly journals A de novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case

2014 ◽  
Vol 35 (6) ◽  
pp. 1513.e7-1513.e11 ◽  
Author(s):  
Andrea Calvo ◽  
Cristina Moglia ◽  
Antonio Canosa ◽  
Maura Brunetti ◽  
Marco Barberis ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Nonsense Mutation ◽  
De Novo ◽  
Familial Amyotrophic Lateral Sclerosis ◽  
Amyotrophic Lateral Sclerosis Case ◽  
Lateral Sclerosis

The densitometric physical fractionator for counting neuronal populations: application to a mouse model of familial amyotrophic lateral sclerosis

2003 ◽  
Vol 129 (1) ◽  
pp. 61-71 ◽  
Author(s):  
Giuseppe Luca Ciavarro ◽  
Novella Calvaresi ◽  
Andrea Botturi ◽  
Caterina Bendotti ◽  
Giuseppe Andreoni ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Mouse Model ◽  
Familial Amyotrophic Lateral Sclerosis ◽  
Neuronal Populations ◽  
Lateral Sclerosis

scholarly journals Serum microRNAs in patients with genetic amyotrophic lateral sclerosis and pre-manifest mutation carriers

Brain ◽  
2014 ◽  
Vol 137 (11) ◽  
pp. 2938-2950 ◽  
Author(s):  
Axel Freischmidt ◽  
Kathrin Müller ◽  
Lisa Zondler ◽  
Patrick Weydt ◽  
Alexander E. Volk ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Expression Profiles ◽  
Consensus Sequence ◽  
Disease Onset ◽  
Therapeutic Targets ◽  
Familial Amyotrophic Lateral Sclerosis ◽  
Sequence Motif ◽  
Mutation Carriers ◽  
Disease Modifying ◽  
Lateral Sclerosis

Abstract Knowledge about the nature of pathomolecular alterations preceding onset of symptoms in amyotrophic lateral sclerosis is largely lacking. It could not only pave the way for the discovery of valuable therapeutic targets but might also govern future concepts of pre-manifest disease modifying treatments. MicroRNAs are central regulators of transcriptome plasticity and participate in pathogenic cascades and/or mirror cellular adaptation to insults. We obtained comprehensive expression profiles of microRNAs in the serum of patients with familial amyotrophic lateral sclerosis, asymptomatic mutation carriers and healthy control subjects. We observed a strikingly homogenous microRNA profile in patients with familial amyotrophic lateral sclerosis that was largely independent from the underlying disease gene. Moreover, we identified 24 significantly downregulated microRNAs in pre-manifest amyotrophic lateral sclerosis mutation carriers up to two decades or more before the estimated time window of disease onset; 91.7% of the downregulated microRNAs in mutation carriers overlapped with the patients with familial amyotrophic lateral sclerosis. Bioinformatic analysis revealed a consensus sequence motif present in the vast majority of downregulated microRNAs identified in this study. Our data thus suggest specific common denominators regarding molecular pathogenesis of different amyotrophic lateral sclerosis genes. We describe the earliest pathomolecular alterations in amyotrophic lateral sclerosis mutation carriers known to date, which provide a basis for the discovery of novel therapeutic targets and strongly argue for studies evaluating presymptomatic disease-modifying treatment in amyotrophic lateral sclerosis.

Familial amyotrophic lateral sclerosis and parkinsonism-dementia complex of the Kii peninsula of Japan: Clinical and neuropathological study and tau analysis

2001 ◽  
Vol 49 (4) ◽  
pp. 501-511 ◽  
Author(s):  
Shigeki Kuzuhara ◽  
Yasumasa Kokubo ◽  
Ryogen Sasaki ◽  
Yugo Narita ◽  
Tadashi Yabana ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Familial Amyotrophic Lateral Sclerosis ◽  
Kii Peninsula ◽  
Lateral Sclerosis

TDP-43mutation in familial amyotrophic lateral sclerosis

2008 ◽  
Vol 63 (4) ◽  
pp. 538-542 ◽  
Author(s):  
Akio Yokoseki ◽  
Atsushi Shiga ◽  
Chun-Feng Tan ◽  
Asako Tagawa ◽  
Hiroyuki Kaneko ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Familial Amyotrophic Lateral Sclerosis ◽  
Lateral Sclerosis

scholarly journals Questioning on the role of D amino acid oxidase in familial amyotrophic lateral sclerosis

2010 ◽  
Vol 107 (26) ◽  
pp. E107-E107 ◽  
Author(s):  
S. Millecamps ◽  
S. Da Barroca ◽  
C. Cazeneuve ◽  
F. Salachas ◽  
P.-F. Pradat ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Amino Acid ◽  
Familial Amyotrophic Lateral Sclerosis ◽  
Acid Oxidase ◽  
Amino Acid Oxidase ◽  
Lateral Sclerosis
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