Amyotrophic lateral sclerosis

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The percentage of patients with PLS and PMA with cognitive dysfunction was similar to patients with ALS, emphasising the importance for cognitive screening as part of routine clinical care in all three patient groups. With a similar cognitive profile, in line with genetic and clinical overlap between the MNDs, the view of PLS as an MND exclusively affecting upper motor neurons and PMA exclusively affecting lower motor neurons cannot be held. Therefore, our findings are in contrast to the recently revised El Escorial criteria of 2015, where PLS and PMA are described as restricted phenotypes. Our study favours a view of PLS and PMA as multidomain diseases similar to ALS.

Section: Discussionmentioning

confidence: 99%

Cognitive and behavioural changes in PLS and PMA:challenging the concept of restricted phenotypes

Vries

Rustemeijer

Bakker

et al. 2018

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“…This leads to progressive paralysis ending with death from respiratory failure after a median of 30 months. Up to 10% of patients with ALS are also affected by frontotemporal dementia (FTD),1 while 5%–10% of ALS cases are familial and caused by mutations in known genes 2. The diagnosis of ALS is primarily clinical; fluid biomarkers have not yet entered clinical practice, but they are urgently needed for diagnosis, prognosis, patient stratification in clinical trials and monitoring of drug effects 3.…”

Section: Introductionmentioning

confidence: 99%

Neurofilament light chain in serum for the diagnosis of amyotrophic lateral sclerosis

Verde¹,

Steinacker

Weishaupt

et al. 2018

202

179

ObjectiveTo determine the diagnostic and prognostic performance of serum neurofilament light chain (NFL) in amyotrophic lateral sclerosis (ALS).MethodsThis single-centre, prospective, longitudinal study included the following patients: 124 patients with ALS; 50 patients without neurodegenerative diseases; 44 patients with conditions included in the differential diagnosis of ALS (disease controls); 65 patients with other neurodegenerative diseases (20 with frontotemporal dementia, 20 with Alzheimer’s disease, 19 with Parkinson’s disease, 6 with Creutzfeldt-Jakob disease (CJD)). Serum NFL levels were measured using the ultrasensitive single molecule array (Simoa) technology.ResultsSerum NFL levels were higher in ALS in comparison to all other categories except for CJD. A cut-off level of 62 pg/mL discriminated between ALS and all other conditions with 85.5% sensitivity (95% CI 78% to 91.2%) and 81.8% specificity (95% CI 74.9% to 87.4%). Among patients with ALS, serum NFL correlated positively with disease progression rate (rs=0.336, 95% CI 0.14 to 0.506, p=0.0008), and higher levels were associated with shorter survival (p=0.0054). Serum NFL did not differ among patients in different ALS pathological stages as evaluated by diffusion-tensor imaging, and in single patients NFL levels were stable over time.ConclusionsSerum NFL is increased in ALS in comparison to other conditions and can serve as diagnostic and prognostic biomarker. We established a cut-off level for the diagnosis of ALS.

“…Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease, causing a progressive loss of muscle strength of limbs, dysphagia, dysarthria and leading to death due to respiratory failure 1. The peak of onset is between 55 and 75years of age 2.…”

Section: Introductionmentioning

confidence: 99%

Association between alcohol exposure and the risk of amyotrophic lateral sclerosis in the Euro-MOTOR study

D’Ovidio

Rooney

Visser

et al. 2018

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