Serum Neurofilaments in Motor Neuron Disease and Their Utility in Differentiating ALS, PMA and PLS
Neurofilament levels are elevated in many neurodegenerative diseases and have shown promise as diagnostic and prognostic biomarkers in Amyotrophic Lateral Sclerosis (ALS), the most common form of Motor Neuron Disease (MND). This study assesses serum neurofilament light (NFL) and neurofilament heavy...
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| Format: | Article |
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MDPI AG
2023-05-01
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| Series: | Life |
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| Online Access: | https://www.mdpi.com/2075-1729/13/6/1301 |
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| author | Gavin McCluskey Karen E. Morrison Colette Donaghy John McConville Mark O. McCarron Ferghal McVerry William Duddy Stephanie Duguez |
| author_facet | Gavin McCluskey Karen E. Morrison Colette Donaghy John McConville Mark O. McCarron Ferghal McVerry William Duddy Stephanie Duguez |
| author_sort | Gavin McCluskey |
| collection | DOAJ |
| description | Neurofilament levels are elevated in many neurodegenerative diseases and have shown promise as diagnostic and prognostic biomarkers in Amyotrophic Lateral Sclerosis (ALS), the most common form of Motor Neuron Disease (MND). This study assesses serum neurofilament light (NFL) and neurofilament heavy (NFH) chain concentrations in patients with ALS, other variants of motor neuron disease such as Progressive Muscular Atrophy (PMA) and Primary Lateral Sclerosis (PLS), and a range of other neurological diseases. It aims to evaluate the use of NFL and NFH to differentiate these conditions and for the prognosis of MND disease progression. NFL and NFH levels were quantified using electrochemiluminescence immunoassays (ECLIA). Both were elevated in 47 patients with MND compared to 34 patients with other neurological diseases and 33 healthy controls. NFL was able to differentiate patients with MND from the other groups with a Receiver Operating Characteristic (ROC) curve area under the curve (AUC) of 0.90 (<i>p</i> < 0.001). NFL correlated with the rate of disease progression in MND (rho 0.758, <i>p</i> < 0.001) and with the ALS Functional Rating Scale (rho −0.335, <i>p</i> = 0.021). NFL levels were higher in patients with ALS compared to both PMA (<i>p</i> = 0.032) and PLS (<i>p</i> = 0.012) and were able to distinguish ALS from both PMA and PLS with a ROC curve AUC of 0.767 (<i>p</i> = 0.005). These findings support the use of serum NFL to help diagnose and differentiate types of MND, in addition to providing prognostic information to patients and their families. |
| first_indexed | 2024-03-11T02:14:45Z |
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| issn | 2075-1729 |
| language | English |
| last_indexed | 2024-03-11T02:14:45Z |
| publishDate | 2023-05-01 |
| publisher | MDPI AG |
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| series | Life |
| spelling | doaj.art-bb9b2c9371864173857717ee6d92326f2023-11-18T11:17:24ZengMDPI AGLife2075-17292023-05-01136130110.3390/life13061301Serum Neurofilaments in Motor Neuron Disease and Their Utility in Differentiating ALS, PMA and PLSGavin McCluskey0Karen E. Morrison1Colette Donaghy2John McConville3Mark O. McCarron4Ferghal McVerry5William Duddy6Stephanie Duguez7Personalised Medicine Centre, School of Medicine, Ulster University, Derry BT47 6SB, UKDepartment of Neurology, Royal Victoria Hospital, Belfast BT12 6BA, UKDepartment of Neurology, Altnagelvin Hospital, Derry BT47 6SB, UKDepartment of Neurology, Royal Victoria Hospital, Belfast BT12 6BA, UKDepartment of Neurology, Altnagelvin Hospital, Derry BT47 6SB, UKDepartment of Neurology, Altnagelvin Hospital, Derry BT47 6SB, UKPersonalised Medicine Centre, School of Medicine, Ulster University, Derry BT47 6SB, UKPersonalised Medicine Centre, School of Medicine, Ulster University, Derry BT47 6SB, UKNeurofilament levels are elevated in many neurodegenerative diseases and have shown promise as diagnostic and prognostic biomarkers in Amyotrophic Lateral Sclerosis (ALS), the most common form of Motor Neuron Disease (MND). This study assesses serum neurofilament light (NFL) and neurofilament heavy (NFH) chain concentrations in patients with ALS, other variants of motor neuron disease such as Progressive Muscular Atrophy (PMA) and Primary Lateral Sclerosis (PLS), and a range of other neurological diseases. It aims to evaluate the use of NFL and NFH to differentiate these conditions and for the prognosis of MND disease progression. NFL and NFH levels were quantified using electrochemiluminescence immunoassays (ECLIA). Both were elevated in 47 patients with MND compared to 34 patients with other neurological diseases and 33 healthy controls. NFL was able to differentiate patients with MND from the other groups with a Receiver Operating Characteristic (ROC) curve area under the curve (AUC) of 0.90 (<i>p</i> < 0.001). NFL correlated with the rate of disease progression in MND (rho 0.758, <i>p</i> < 0.001) and with the ALS Functional Rating Scale (rho −0.335, <i>p</i> = 0.021). NFL levels were higher in patients with ALS compared to both PMA (<i>p</i> = 0.032) and PLS (<i>p</i> = 0.012) and were able to distinguish ALS from both PMA and PLS with a ROC curve AUC of 0.767 (<i>p</i> = 0.005). These findings support the use of serum NFL to help diagnose and differentiate types of MND, in addition to providing prognostic information to patients and their families.https://www.mdpi.com/2075-1729/13/6/1301motor neuron diseaseamyotrophic lateral sclerosisprogressive muscular atrophyprimary lateral sclerosisneurofilament lightneurofilament heavy |
| spellingShingle | Gavin McCluskey Karen E. Morrison Colette Donaghy John McConville Mark O. McCarron Ferghal McVerry William Duddy Stephanie Duguez Serum Neurofilaments in Motor Neuron Disease and Their Utility in Differentiating ALS, PMA and PLS Life motor neuron disease amyotrophic lateral sclerosis progressive muscular atrophy primary lateral sclerosis neurofilament light neurofilament heavy |
| title | Serum Neurofilaments in Motor Neuron Disease and Their Utility in Differentiating ALS, PMA and PLS |
| title_full | Serum Neurofilaments in Motor Neuron Disease and Their Utility in Differentiating ALS, PMA and PLS |
| title_fullStr | Serum Neurofilaments in Motor Neuron Disease and Their Utility in Differentiating ALS, PMA and PLS |
| title_full_unstemmed | Serum Neurofilaments in Motor Neuron Disease and Their Utility in Differentiating ALS, PMA and PLS |
| title_short | Serum Neurofilaments in Motor Neuron Disease and Their Utility in Differentiating ALS, PMA and PLS |
| title_sort | serum neurofilaments in motor neuron disease and their utility in differentiating als pma and pls |
| topic | motor neuron disease amyotrophic lateral sclerosis progressive muscular atrophy primary lateral sclerosis neurofilament light neurofilament heavy |
| url | https://www.mdpi.com/2075-1729/13/6/1301 |
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