2023
DOI: 10.1007/s00415-023-11787-y
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Biomarkers in 5q-associated spinal muscular atrophy—a narrative review

Abstract: Abstract5q-associated spinal muscular atrophy (SMA) is a rare genetic disease caused by mutations in the SMN1 gene, resulting in a loss of functional SMN protein and consecutive degeneration of motor neurons in the ventral horn. The disease is clinically characterized by proximal paralysis and secondary skeletal muscle atrophy. New disease-modifying drugs driving SMN gene expression have been developed in the past decade and have revolutionized SMA treatment. The rise of treatment options led to a concomitant … Show more

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Cited by 12 publications
(7 citation statements)
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“…Finally, the consecutive accrual may be prone to selection bias. Various putative biomarker sources for SMA have been under investigation, including clinical, electrophysiologic, imaging, molecular, and digital biomarkers [10,[25][26][27]. Other than imaging technologies [28][29][30][31][32], electrophysiologic recordings, including CMAP measurements, motor unit number estimation (MUNE), and MUNIX, assess the functional status of the motor unit pool and are therefore important in the diagnostic process and monitoring of disease progression in motor neuron disorders.…”
Section: Discussionmentioning
confidence: 99%
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“…Finally, the consecutive accrual may be prone to selection bias. Various putative biomarker sources for SMA have been under investigation, including clinical, electrophysiologic, imaging, molecular, and digital biomarkers [10,[25][26][27]. Other than imaging technologies [28][29][30][31][32], electrophysiologic recordings, including CMAP measurements, motor unit number estimation (MUNE), and MUNIX, assess the functional status of the motor unit pool and are therefore important in the diagnostic process and monitoring of disease progression in motor neuron disorders.…”
Section: Discussionmentioning
confidence: 99%
“…Most recently, risdiplam, an oral, well-tolerated small molecule SMN2 splicing modifier, was approved for the treatment of SMA patients, based on positive results from randomized placebo-controlled clinical trials in patients with type 1, type 2, or non-ambulant type 3 SMA, up to an age of 25 years [7][8][9]. The rise of several cost-intensive innovative treatment options for SMA has led to a concomitant need of reliable biomarkers for meeting the challenges of therapeutic guidance and improved disease monitoring [10]. However, biomarkers appropriate to measure, monitor, or even predict the response to disease-modifying drugs such as risdiplam are still lacking to date.…”
Section: Introductionmentioning
confidence: 99%
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“…The clinical variability is partly attributed to the number of copies of the SMN2 gene in patients. However, there is an increasing body of evidence suggesting that additional factors play a role in the manifestation of the disease [ 6 ].…”
Section: Introductionmentioning
confidence: 99%
“…As there has no biomarker been validated of these new therapeutic options for the clinical routine yet, clinical scales remain the most relevant outcome parameter to date 10 . Major efforts for identifying suitable biomarkers have been undertaken but none have been implemented into clinical routine yet.…”
Section: Introductionmentioning
confidence: 99%