Concomitant amyotrophic lateral sclerosis and paraclinical laboratory features of multiple sclerosis: coincidence or causal relationship?

Abstract

We report a 55-year-old patient, presenting with paresis, muscle atrophy and dysarthria, all symptoms accordable to definite amyotrophic lateral sclerosis (ALS). However, MRI and cerebrospinal fluid show abnormalities typical of multiple sclerosis (MS). On the basis of this case report, we discuss possible overlaps between both diseases by comparing clinical and paraclinical features including laboratory, radiological and electrophysiological diagnostics. As genetic, as well as environmental, factors are assumed to be involved in the development of both the diseases, literature is reviewed according to similar cases, results of autopsies and possible parallels in pathogenesis. In summary, based on the data currently available, the hypothesis of ALS being a neurodegenerative multisystem disorder, a common pathophysiological pathway or, alternatively, a random comorbidity of ALS and MS in this patient has to be discussed.

No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis

“…In this study, we have applied several statistical approaches to the investigation of shared susceptibility loci between the neurological diseases MS and ALS, which are both thought to involve inflammatory and neurodegenerative components (1,17,18) and for which case reports and epidemiological studies have reported co-occurrence within individuals or families (19)(20)(21)(22)(23)(24)(25)(26)(27)(28)(29). The strength of the study is that different statistical approaches are consistent in demonstrating that the number of regions in the genome with evidence for an overlap in susceptibility between the two diseases is not more than expected by chance.…”

“…On the other hand, for diseases classified as neurodegenerative such as ALS, an inflammatory or immune component has been implicated but is not yet conclusive (17,18). Case reports have described patients affected by both diseases (19)(20)(21)(22)(23)(24) and an increased co-occurrence of MS and ALS compared with what is expected has been observed (25,26). Studies also report an increased risk of MS among relatives of patients suffering from ALS and vice versa (27)(28)(29), and some but not all studies report geographical correlation in mortality rates of both diseases (30,31).…”

Coexistence of Neuromyelitis Optica and Amyotrophic Lateral Sclerosis: A Case Report

“…It has been described in the literature only in the context of MS, suggesting a potential interaction between neuroinflammation and neurodegeneration. 8 To our knowledge, this is the first case report in the literature to describe both ALS and NMO in a patient.…”

“…The coexistence of ALS and an inflammatory demyelinating disease has been described previously only in the context of MS, suggesting that ALS and MS may share patterns of neuroinflammation, specifically signaling pathways and blood–brain barrier disruption. 8 Activated transcription factor nuclear factor kappa-light-chain-enhancer of activated B cells (NK-kB) was found in both oligodendrocytes of active MS plaques and astrocytes, but not motor neurons, of patients with ALS. 9,10 Similar neuroinflammatory mechanisms may exist in NMO pathogenesis.…”