scholarly journals Pathologic expansion in the C9orf72 gene is associated with accelerated decline of respiratory function and decreased survival in amyotrophic lateral sclerosis

2021 ◽  
Vol 53 (sup1) ◽  
pp. S6-S6
Author(s):  
Gabriel Miltenberger-Miltenyi ◽  
Vasco A. Conceição ◽  
Marta Gromicho ◽  
Ana Catarina Pronto-Laborinho ◽  
Susana Pinto ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Respiratory Function ◽  
C9orf72 Gene ◽  
Lateral Sclerosis

C9orf72 Gene Expression in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

2020 ◽  
Vol 169 (5) ◽  
pp. 673-676
Author(s):  
Yu. A. Shpilyukova ◽  
E. Yu. Fedotova ◽  
N. Yu. Abramycheva ◽  
I. A. Kochergin ◽  
I. V. Zakroyshchikova ◽  
...  
Keyword(s):  
Gene Expression ◽  
Amyotrophic Lateral Sclerosis ◽  
Frontotemporal Dementia ◽  
C9orf72 Gene ◽  
Lateral Sclerosis

Respiratory function and cognitive profile in amyotrophic lateral sclerosis

2019 ◽  
Vol 27 (4) ◽  
pp. 685-691 ◽  
Author(s):  
W. Huynh ◽  
L. E. Sharplin ◽  
J. Caga ◽  
E. Highton‐Williamson ◽  
M. C. Kiernan
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Respiratory Function ◽  
Cognitive Profile ◽  
Lateral Sclerosis

scholarly journals Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p

2012 ◽  
Vol 123 (3) ◽  
pp. 409-417 ◽  
Author(s):  
Heather Stewart ◽  
Nicola J. Rutherford ◽  
Hannah Briemberg ◽  
Charles Krieger ◽  
Neil Cashman ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Pathological Features ◽  
C9orf72 Gene ◽  
Chromosome 9P ◽  
Lateral Sclerosis ◽  
Clinical And Pathological Features

scholarly journals Errata: Measuring Disease Severity in Duchenne and Becker Muscular Dystrophy

2011 ◽  
Vol 1 (2) ◽  
Author(s):  
Melinda F. Davis ◽  
Katalin H. Scherer ◽  
Timothy M. Miller ◽  
F. John Meaney
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Muscular Dystrophy ◽  
Disease Severity ◽  
Muscle Weakness ◽  
Respiratory Function ◽  
Rating Scale ◽  
Becker Muscular Dystrophy ◽  
Progressive Muscle Weakness ◽  
Lateral Sclerosis ◽  
Disease Specific

Reports an error in Davis et al. (2010).  The functional motor scale used in Davis et al. (2010) was the EK (Egen Klassifikation) Scale, rather than the Amyotrophic Lateral Sclerosis Functional Rating Scale (Steffensen et al., 2002; Cedarbaum & Stambler, 1997).  Both scales are 10-item, disease-specific measures that assess mobility and respiratory function in individuals with progressive muscle weakness.  This error does not change the conclusions. DOI:10.2458/azu_jmmss_v1i2_davis

scholarly journals The C9orf72 expansion is associated with accelerated respiratory function decline in a large Amyotrophic Lateral Sclerosis cohort

2019 ◽  
Vol 2 ◽  
pp. 23
Author(s):  
James Rooney ◽  
Deirdre Murray ◽  
Anna Campion ◽  
Hannah Moloney ◽  
Rachel Tattersall ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Respiratory Function ◽  
Rating Scale ◽  
Repeat Expansion ◽  
Joint Models ◽  
Hexanucleotide Repeat ◽  
Negative Effect ◽  
Prognostic Importance ◽  
And Gender ◽  
Lateral Sclerosis

Introduction: The C9orf72 hexanucleotide repeat expansion is causal in amyotrophic lateral sclerosis (ALS) and has a negative effect on prognosis. The C9orf72 repeat expansion has been associated with an accelerated deterioration of respiratory function and survival in a cohort of 372 Portuguese patients. Methods: Cases presenting to the Irish ALS clinic with both longitudinal occluded sniff nasal inspiratory pressure (SNIP) and C9orf72 testing were including in the study. Clinical variables and survival characteristics of these patients were collected. Joint longitudinal and time to event models were constructed to explore the longitudinal characteristics of the cohort by C9orf72 status. Results: In total, 630 cases were included, of which 58 (9.2%) carried the C9orf72 repeat expansion. Plots of the longitudinal trend after joint modelling revealed that those carrying the expansion had worse respiratory function throughout the course of their disease than those without. The ALS Functional Rating Scale-revised (ALSFRS-R) respiratory sub-score did not distinguish C9orf72 normal from expanded cases. Furthermore, modelling by site of onset and gender sub-groups revealed that this difference was greatest in male spinal onset cases. Joint models further indicated that occluded SNIP values were of prognostic importance. Conclusions: Our results confirm findings from Portugal that the C9orf72 repeat expansion is associated with accelerated respiratory function decline. Analysis via joint models indicate that respiratory function is of prognostic importance and may explain previous observations of poorer prognosis in male spinal onset patients carrying the C9orf72 expansion.

Use of respiratory function tests to predict survival in amyotrophic lateral sclerosis

2009 ◽  
pp. 1-9 ◽  
Author(s):  
Fusun Baumann ◽  
Robert Henderson ◽  
Stephen Morrison ◽  
Michael Brown ◽  
N. Hutchinson ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Respiratory Function ◽  
Respiratory Function Tests ◽  
Function Tests ◽  
Lateral Sclerosis
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