scholarly journals Identification of pathogenic C9orf72 hexanucleotide repeat expansion in a Chinese patient with frontotemporal dementia: A case report

2021 ◽  
Author(s):  
Yan‐Yan Xue ◽  
Zhi‐Ying Wu ◽  
Hong‐Fu Li
Keyword(s):  
Case Report ◽  
Frontotemporal Dementia ◽  
Repeat Expansion ◽  
Chinese Patient ◽  
Hexanucleotide Repeat ◽  
Hexanucleotide Repeat Expansion

scholarly journals Early onset frontotemporal dementia with psychiatric presentation due to the C9ORF72 hexanucleotide repeat expansion: a case report

BMC Neurology ◽  
2014 ◽  
Vol 14 (1) ◽  
Author(s):  
Carla Gramaglia ◽  
Roberto Cantello ◽  
Emanuela Terazzi ◽  
Miryam Carecchio ◽  
Sandra D’Alfonso ◽  
...  
Keyword(s):  
Case Report ◽  
Frontotemporal Dementia ◽  
Early Onset ◽  
Repeat Expansion ◽  
Hexanucleotide Repeat ◽  
Hexanucleotide Repeat Expansion

Different CSF protein profiles in amyotrophic lateral sclerosis and frontotemporal dementia with C9orf72 hexanucleotide repeat expansion

2020 ◽  
Vol 91 (5) ◽  
pp. 503-511 ◽  
Author(s):  
Peggy Barschke ◽  
Patrick Oeckl ◽  
Petra Steinacker ◽  
MHD Rami Al Shweiki ◽  
Jochen H Weishaupt ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Frontotemporal Dementia ◽  
Multiple Reaction Monitoring ◽  
Repeat Expansion ◽  
Common Mutation ◽  
Hexanucleotide Repeat ◽  
Mutation Carriers ◽  
Csf Levels ◽  
Hexanucleotide Repeat Expansion ◽  
Lateral Sclerosis

ObjectivesThe hexanucleotide repeat expansion in the C9orf72 gene is the most common mutation associated with amyotrophic lateral sclerosis (C9-ALS) and frontotemporal dementia (C9-FTD). Until now, it is unknown which factors define whether C9orf72 mutation carriers develop ALS or FTD. Our aim was to identify protein biomarker candidates in the cerebrospinal fluid (CSF) which differentiate between C9-ALS and C9-FTD and might be indicative for the outcome of the mutation.MethodsWe compared the CSF proteome of 16 C9-ALS and 8 C9-FTD patients and 11 asymptomatic C9orf72 mutation carriers (CAR) by isobaric tags for relative and absolute quantitation. Eleven biomarker candidates were selected from the pool of differentially regulated proteins for further validation by multiple reaction monitoring and single-molecule array in a larger cohort (n=156).ResultsIn total, 2095 CSF proteins were identified and 236 proteins were significantly different in C9-ALS versus C9-FTD including neurofilament medium polypeptide (NEFM) and chitotriosidase-1 (CHIT1). Eight candidates were successfully validated including significantly increased ubiquitin carboxyl-terminal hydrolase isozyme L1 (UCHL1) levels in C9-ALS compared with C9-FTD and controls and decreased neuronal pentraxin receptor (NPTXR) levels in C9-FTD versus CAR.ConclusionsThis study presents a deep proteomic CSF analysis of C9-ALS versus C9-FTD patients. As a proof of concept, we observed higher NEFM and CHIT1 CSF levels in C9-ALS. In addition, we also show clear upregulation of UCHL1 in C9-ALS and downregulation of NPTXR in C9-FTD. Significant differences in UCHL1 CSF levels may explain diverging ubiquitination and autophagy processes and NPTXR levels might reflect different synapses organisation processes.

scholarly journals Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

Brain ◽  
2012 ◽  
Vol 135 (3) ◽  
pp. 736-750 ◽  
Author(s):  
C. J. Mahoney ◽  
J. Beck ◽  
J. D. Rohrer ◽  
T. Lashley ◽  
K. Mok ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Repeat Expansion ◽  
Hexanucleotide Repeat ◽  
Hexanucleotide Repeat Expansion

IC-P-095: The neuroimaging phenotype of frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion

2012 ◽  
Vol 8 (4S_Part_2) ◽  
pp. P55-P55
Author(s):  
Colin Mahoney ◽  
Jonathan Rohrer ◽  
Jon Beck ◽  
Tim Shakespeare ◽  
Tom Yeatman ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Repeat Expansion ◽  
Hexanucleotide Repeat ◽  
Hexanucleotide Repeat Expansion
Sign in / Sign up

Export Citation Format

Share Document