Secondary mania as a possible presentation of a C9orf72 hexanucleotide repeat expansion

2018 ◽  
Author(s):  
Francis N Saridin ◽  
Sigfried NTM Schouws ◽  
Jeroen Jong ◽  
Yolande AL Pijnenburg ◽  
Annemiek Dols
Keyword(s):  
Repeat Expansion ◽  
Hexanucleotide Repeat ◽  
Hexanucleotide Repeat Expansion ◽  
Secondary Mania

scholarly journals C9orf72-derived arginine-containing dipeptide repeats associate with axonal transport machinery and impede microtubule-based motility

2021 ◽  
Vol 7 (15) ◽  
pp. eabg3013
Author(s):  
Laura Fumagalli ◽  
Florence L. Young ◽  
Steven Boeynaems ◽  
Mathias De Decker ◽  
Arpan R. Mehta ◽  
...  
Keyword(s):  
Axonal Transport ◽  
Motor Neurons ◽  
Single Molecule ◽  
Repeat Expansion ◽  
Physical Interaction ◽  
Hexanucleotide Repeat ◽  
Hexanucleotide Repeat Expansion ◽  
Axonal Trafficking ◽  
Inhibitory Interactions

A hexanucleotide repeat expansion in the C9orf72 gene is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). How this mutation leads to these neurodegenerative diseases remains unclear. Here, we show using patient stem cell–derived motor neurons that the repeat expansion impairs microtubule-based transport, a process critical for neuronal survival. Cargo transport defects are recapitulated by treating neurons from healthy individuals with proline-arginine and glycine-arginine dipeptide repeats (DPRs) produced from the repeat expansion. Both arginine-rich DPRs similarly inhibit axonal trafficking in adult Drosophila neurons in vivo. Physical interaction studies demonstrate that arginine-rich DPRs associate with motor complexes and the unstructured tubulin tails of microtubules. Single-molecule imaging reveals that microtubule-bound arginine-rich DPRs directly impede translocation of purified dynein and kinesin-1 motor complexes. Collectively, our study implicates inhibitory interactions of arginine-rich DPRs with axonal transport machinery in C9orf72-associated ALS/FTD and thereby points to potential therapeutic strategies.

scholarly journals Hippocampal sclerosis dementia with the C9ORF72 hexanucleotide repeat expansion

2014 ◽  
Vol 35 (10) ◽  
pp. 2419.e17-2419.e21 ◽  
Author(s):  
Olga Pletnikova ◽  
Kelly L. Sloane ◽  
Alan E. Renton ◽  
Bryan J. Traynor ◽  
Barbara J. Crain ◽  
...  
Keyword(s):  
Hippocampal Sclerosis ◽  
Repeat Expansion ◽  
Hexanucleotide Repeat ◽  
Hexanucleotide Repeat Expansion

scholarly journals Prevalence of C9orf72 hexanucleotide repeat expansion in Greek patients with sporadic ALS

2020 ◽  
Vol 21 (5-6) ◽  
pp. 470-472
Author(s):  
Maria Sokratous ◽  
Schottlaender Lucia ◽  
Thomas Bourinaris ◽  
Chrysoula Marogianni ◽  
Marianthi Arnaoutoglou ◽  
...  
Keyword(s):  
Repeat Expansion ◽  
Hexanucleotide Repeat ◽  
Sporadic Als ◽  
Hexanucleotide Repeat Expansion

scholarly journals C9orf72 Hexanucleotide Repeat Expansion and Guam Amyotrophic Lateral Sclerosis–Parkinsonism-Dementia Complex

2013 ◽  
Vol 70 (6) ◽  
pp. 742 ◽  
Author(s):  
Beth A. Dombroski ◽  
Douglas R. Galasko ◽  
Ignacio F. Mata ◽  
Cyrus P. Zabetian ◽  
Ulla-Katrina Craig ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Repeat Expansion ◽  
Hexanucleotide Repeat ◽  
Hexanucleotide Repeat Expansion ◽  
Lateral Sclerosis

Antemortem Characterization of a Kindred Carrying the Non-Coding GGGGCC Hexanucleotide Repeat Expansion in C9ORF72 (P05.062)

Neurology ◽  
2012 ◽  
Vol 78 (Meeting Abstracts 1) ◽  
pp. P05.062-P05.062
Author(s):  
A. Adeli ◽  
B. Boeve ◽  
M. DeJesus-Hernandez ◽  
M. Baker ◽  
N. Rutherford ◽  
...  
Keyword(s):  
Repeat Expansion ◽  
Hexanucleotide Repeat ◽  
Hexanucleotide Repeat Expansion
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