Table 1 Demographic, clinical, and neurogenetic features of patients with co-occurring MS/ALS diagnoses
Patient | Study | Year of the study | Age | Gender | Radiographic image | CSF OCP | Electrodiagnostic | MS onset | ALS onset | Genetic test | Comment | Location |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | This study | 2023 | 46 | Female | Hyperintense T2/FLAIR signal abnormality involving the periventricular and subcortical white matter (typical demyelination) | Negative | Based on revised El Escorial classification of ALS with involvement of 3 segments | September 2022 | April 2022 | Not done | Â | Saudi Arabia |
2 | Fiondella L et al. [1] | 2022 | 49 | Female | Demyelinating lesions in the periventricular and hemispheric deep white matter and cervical spinal cord | Positive | Presence of fasciculation and fibrillation potentials together with neurogenic signs in different districts (right deltoid, right trapezius, first interosseous and biceps bilaterally; right gastrocnemius, tibialis, and vastus medialis bilaterally) | 1994 (25 y) | 2017 (49 y) | Positive for C9orf72 mutation in FUS | Â | Italy |
3 | Hader WJ, et al. [3] | 1986 | 56 | Male | Not mentioned | Not included | EMG revealed fibrillations and fasciculations in the right deltoid and right triceps muscles; the interference pattern was reduced, and some motor units were of prolonged duration, high amplitude and polyphasic | 1957 (29 y) | 1982 (56 y) | Not included | Postpartum evaluation confirmed classic feature of ALS and MS Presence of demyelination plaque and loss of nerve cells in anterior horn | Canada |
4 | Li G, et al. [8] | 2012 | 40 | Male | Not included | Not included | Not included | 2006 (37 y) | 2004 (40 y) | Negative (TDP-43 positive) | Postpartum evaluation confirmed classic feature of ALS and MS | UK |
5 | Ismail A, et al. [9] | 2012 | 62 | Female | Periventricular white matter lesions | Positive | Evidence of denervation involving cranial, cervical, thoracic, and lumbosacral segments | 22 | 62 | Positive C9orf72 | Autopsy showed chronic plaques and severe loss of motor neurons with Bunina bodies and skein-like | UK |
6 | Ismail A, et al. [9] | 2012 | 52 | Female | Multiple lesions in the corpus callosum, cerebellum, and supratentorial lesions. High signal lesion in the right posterior aspect of cervical spinal cord (C4). No Gd-enhancing lesions | Positive | Widespread evidence of denervation was apparent on EMG | 49 | 52 | No data | Â | UK |
7 | Ismail A, et al. [9] | 2012 | 52 | Female | Multiple periventricular and juxtacortical lesions. Multiple lesions in the cervical spinal cord and a single lesion at the dorsal spinal cord (T2) | Positive | Widespread evidence of denervation was apparent on EMG | 43 | 52 | Positive C9orf72 | Â | UK |
8 | Ismail A, et al. [9] | 2012 | 67 | Male | Multiple lesions in the periventricular white matter, pontine base, and cerebellar hemispheres | Positive | Widespread evidence of denervation was apparent on EMG | 46 | 67 | Positive C9orf72 | Â | UK |
9 | Ismail A, et al. [9] | 2012 | 40 | Male | Multiple lesions within the periventricular white matter, subcortical white matter, upper cervical cord, brainstem, cerebellum, and corpus callosum. Several of the lesions showed gadolinium enhancement indicative of active disease | Positive | Widespread evidence of denervation was apparent on EMG | 39 | 40 | No data | Â | UK |
10 | Ismail A, et al. [9] | 2012 | 41 | Female | Multiple lesions within the periventricular white matter. No Gd-enhancing lesions | Positive | Widespread evidence of denervation was apparent on EMG | 40 | 41 | Negative | Â | UK |
11 | Ismail A, et al. [9] | 2012 | 56 | Female | Multiple lesions within the periventricular white matter and corpus callosum. No Gd-enhancing lesions | Negative | Widespread evidence of denervation was apparent on EMG | Unknown | 56 | Positive C9orf72 | Â | UK |
12 | Dattola V., et al. [10] | 2016 | 47 | Female | Evidence of multiple demyelinating lesions | Positive | Diffuse neurogenic degeneration and signs of anterior horn cells involvement suggesting a diagnosis of ALS | 48 | 47 | HLA B18 and DR52 HLA DQ6 | Â | Italy |
13 | Dattola V., et al. [10] | 2016 | 38 | Female | MRI examination were consistent with a diagnosis of RRMS | Positive | Diffuse neurogenic degeneration and signs of anterior horn cells involvement, leading to a diagnosis of ALS | 35 | 38 | HLA B18 and DR52 HLA DQ6 | Â | Italy |
14 | Dattola V., et al. [10] | 2016 | 52 | Female | - | - | Motor axonal changes in upper and lower limbs, clearly consistent with the diagnosis of ALS | Unknown | 52 | HLA DR 15 | Â | Italy |
15 | Dattola V., et al. [10] | 2016 | 49 | Â | MRI examination were consistent with a diagnosis of RRMS | Positive | EMG confirmed the diagnosis of ALS | 46 | 49 | HLA DR 15 HLA B18 and DR52 | Â | Italy |
5 | Pocock K et al. [11] | 2021 | 72 | Female | Demonstrated diffuse active and chronic denervation | Negative | Widespread active and chronic denervation | 49 | 72 | Negative for C9orf72 | Study was included after ALS diagnosis between 2016–2019 | USA |
4 | Pocock K et al. [11] | 2021 | 70- | Female | Widespread active and chronic denervation | Positive | Widespread active and chronic denervation | 68 | 70 | Negative for C9orf72 | Study was included after ALS diagnosis between 2016–2019 | USA |
6 | Pocock K et al. [11] | 2021 | 49 | Female | Active demyelinating disease | Negative | Widespread active and chronic denervation | 49 | 49 | Negative | Study was included after ALS diagnosis between 2016–2019 | USA |
7 | Pocock K et al. [11] | 2021 | 51 | Female | Chronic periventricular demyelinating | Not included | ALS as EMG | 44 | 51 | Negative | Study was included after ALS diagnosis between 2016–2019 | USA |
8 | Pocock K et al. [11] | 2021 | 64 | Female | Chronic demyelinating changes in the brain and cervical spine | Not included | Widespread active and chronic denervation | 63 | 64 | Negative | Study was included after ALS diagnosis between 2016–2019 | USA |
10 | Sproviero W., et al. [12] | 2011 | 45 | Female | Not included | Positive | Not included but mentioned based on clinical and electrophysiological results | Not mentioned | 45 | P525L mutation (ALS-04) | Â | Italy |
11 | Guennoc A. M, et al. [13] | 2018 | 53 | Female | T2-weighted periventricular and left parietal lobe white matter hyper-signals | Not included | chronic denervation at the bulbar, cervical, and lumbar levels | 2003 (41 y) | 2014 (52 y) | - | Â | France |
12 | Guennoc A. M, et al. [13] | 2018 | 52 | Male | MRI findings revealed characteristic periventricular hyper-signals in T2-weighted sequences | - | Widespread denervation without conduction abnormalities | 34 | 50 | - | Â | France |
13 | Guennoc A. M, et al. [13] | 2018 | 51 | Female | Active demyelination at cervical region with stable cortical lesion | - | - | 39 | 51 | - | Â | France |
14 | Guennoc A. M, et al. [13] | 2018 | 60 | Female | Chronic demyelinating changes in the brain (periventricular) | - | - | 27 | 59 | - | Â | France |
15 | Guennoc A. M, et al. [13] | 2018 | 54 | Female | Periventricular and pericallosal hypersignals in T2- weighted sequences with some lesions enhanced after gadolinium injection | Negative | Diffuse denervation result supported the diagnosis of ALS | 54 | 55 | - | Â | France |
16 | Hewitt C, et al. [14] | 2010 | 62 | Female | Magnetic resonance imaging of the brain and spine at presentation demonstrated demyelination consistent with the earlier diagnosis of multiple sclerosis | - |  | 23 | 62 | Gly174del | Pathologic evidence of both ALS and multiple sclerosis. Loss of LMNs from the spinal cord and medullary motor nuclei was associated with Bunina bodies and ubiquitin/TDP-43–positive | UK |
17 | Allen J. A., et al. [15] | 2007 | 51 | Male | Periventricular changes with involvement of cervical spine lesions | Positive | Chronic and active denervation is present in three limbs, with profuse fibrillation potentials within paraspinal musculature. Spontaneous activity | 27 y | 2004 (51 y) | - | Â | USA |
29 | Trojsi F., et al. [16] | 2012 | 34 | Female | Lesions on periventricular or juxtacortical white matter and gadolinium enhancement of the lesion in the right corona radiata | Positive | Pathological spontaneous activity at rest (fibrillations and fasciculations) and chronic, neurogenic motor unit changes in three sites (bulbar, upper, and lower limbs), | 33 | 34 | Negative | Â | Italy |
30 | Dynes G. J et al. [17] | 2000 | 62 | Female | Lesions in the callosal and pericallosal regions with two enhancing periventricular foci. also, multiple lesions in cervical and thoracic spine | Positive | Diffuse fasciculations with fibrillations, reduced recruitment and chronic, neurogenic motor unit changes in both arms and the left leg | 61 | 61 | No data | Autopsy highlighted loss of myelinated axons in the lateral and anterior corticospinal tracts with Marked neuronal loss and gliosis were seen in the anterior horns | USA |
31 | Machner B., et al. [18] | 2007 | 56 | Female | Multiple periventricular white matter and cervical lesions | Positive | Chronic signs of denervation in all limbs without nerve conduction block. Clinical and paraclinical examination met the El Escorial criteria for ALS | 55 | 56 | - | Â | Germany |
32 | Borisow N., et al. [19] | 2013 | 56 | Male | T2-hyperintense lesions located juxtacortically, periventricular, and in the area of the optic radiation | Positive | Spontaneous activity in upper and lower limb | Unknown | 2011 (55 y) | - | Â | Germany |
33 | M. Soares, M, et al. [20] | 2022 | 52 | Female | Hyperintense lesions predominantly affecting the periventricular white matter (Dawson's fingers) and brainstem | - | Marked loss of motor units with signs of reinnervation in tongue, chronic neurogenic motor units potentials with fasciculation potentials and signs of acute denervation (fibrillation and sharp-waves) in proximal and distal muscles of upper and lower limbs, bilaterally | 1999 | 2021 (52y) | C9orf72 expansion was negative, | Positive spastic paraplegia 11 (SPG11), | Portugal |