Figure 1
From: Neurofilaments can differentiate ALS subgroups and ALS from common diagnostic mimics
ALS and ALS mimics patient cohort. The study population consisted of patients who underwent investigation for possible motor neuron disease (MND) according to European Federation of Neurological Societies (EFNS) guidelines. The investigation comprised clinical evaluation, neuroimaging, neurophysiological testing (peripheral nerve conduction studies, central motor nerve conduction studies using transcranial motor evoked potentials analysis, and needle electromyography), cerebrospinal fluid and blood analysis. Patients either received an ALS diagnosis (n = 234) or an ALS mimic diagnosis (n = 44). The ALS mimic cohort consisted of patient with other MNDs (n = 13), neuropathies & myelopathies (n = 24) and myopathies (n = 7). A group of controls with no neurological symptoms was recruited for comparison (n = 9). ALS patients were grouped into spinal (n = 148), bulbar (n = 72), truncal (n = 11) or FTD (n = 1) groups according to the site of first onset. ALS patients were also stratified into carriers of mutations in SOD1 (n = 28), C9orf72HRE (n = 28), VAPB (n = 3) or patients with no mutation in these genes (n = 175).
