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Diagnostics
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Diagnosis and Treatment of Amyotrophic Lateral Sclerosis: Where We Are...
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Diagnosis and Treatment of Amyotrophic Lateral Sclerosis: Where We Are and What We Can Expect in the Near Future

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (30 June 2021) | Viewed by 13565

Special Issue Editors

Prof. Dr. Radoslav Matej

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Guest Editor
Thomayer Hospital, Third Faculty of Medicine, Charles University, Prague, Czech Republic
Interests: neuropathology; neurodegeneration; immunohistochemistry; neurodegenerative diseases; prions
Assoc. Prof. Robert Rusina

E-Mail
Guest Editor
Thomayer Hospital, Third Faculty of Medicine, Charles University, Prague, Czech Republic
Interests: cognitive neurology; dementia; frontotemporal dementia; neurodegenerative diseases; prions

Special Issue Information

Dear Colleagues,

Amyotrophic lateral sclerosis (ALS), the most important disease among the group of motor neuron diseases (MNDs), is characterized by the progressive loss of upper and lower motor neurons, muscle weakness, and pyramidal tract involvement, and is both irreversible and fatal.

Many patients with ALS may develop cognitive and behavioral manifestations similar to frontotemporal dementia; these disorders have recently been called amyotrophic lateral sclerosis – frontotemporal spectrum disorder. About 30% of ALS patient with dementia have comorbid Alzheimer’s disease.

Although new information has recently been published about the molecular pathogenesis, advances in neuroimaging are emerging, new treatment options have been proposed, and new information about cognitive decline as an important symptom is currently involved in the diagnostic procedure, we are far from a detailed understanding of this disease.

In this light, it is essential to provide a complex summary of the current knowledge about MND from different expert perspectives in order to understand the modern multidisciplinary approach. To contribute to the information on MND, the following topics will be considered:

  • Molecular pathology of ALS: what we currently know and what important information is still missing;
  • Genetic background of ALS: hereditary forms and their manifestations;
  • Current diagnostic approaches for ALS patients: state-of-the-art;
  • Cognitive and behavioral manifestations in ALS: beyond the motor system involvement;
  • Innovative approaches to ALS treatment: current status and potential bright future.

Dr. Radoslav Matej
Assoc. Prof. Dr. Robert Rusina
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Motor neuron disease
  • Amyotrophic lateral sclerosis
  • Dementia
  • Amyotrophic lateral sclerosis – frontotemporal spectrum disorder
  • TDP-43
  • Molecular genetics
  • Neuropathology

Published Papers (3 papers)

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Review

18 pages, 3860 KiB  
Review
Molecular Pathology of ALS: What We Currently Know and What Important Information Is Still Missing
by Nikol Jankovska and Radoslav Matej
Diagnostics 2021, 11(8), 1365; https://doi.org/10.3390/diagnostics11081365 - 29 Jul 2021
Cited by 12 | Viewed by 3300
Abstract
Despite an early understanding of amyotrophic lateral sclerosis (ALS) as a disease affecting the motor system, including motoneurons in the motor cortex, brainstem, and spinal cord, today, many cases involving dementia and behavioral disorders are reported. Therefore, we currently divide ALS not only [...] Read more.
Despite an early understanding of amyotrophic lateral sclerosis (ALS) as a disease affecting the motor system, including motoneurons in the motor cortex, brainstem, and spinal cord, today, many cases involving dementia and behavioral disorders are reported. Therefore, we currently divide ALS not only based on genetic predisposition into the most common sporadic variant (90% of cases) and the familial variant (10%), but also based on cognitive and/or behavioral symptoms, with five specific subgroups of clinical manifestation—ALS with cognitive impairment, ALS with behavioral impairment, ALS with combined cognitive and behavioral impairment, the fully developed behavioral variant of frontotemporal dementia in combination with ALS, and comorbid ALS and Alzheimer’s disease (AD). Generally, these cases are referred to as amyotrophic lateral sclerosis-frontotemporal spectrum disorder (ALS-FTSD). Clinical behaviors and the presence of the same pathognomonic deposits suggest that FTLD and ALS could be a continuum of one entity. This review was designed primarily to compare neuropathological findings in different types of ALS relative to their characteristic locations as well as the immunoreactivity of the inclusions, and thus, foster a better understanding of the immunoreactivity, distribution, and morphology of the pathological deposits in relation to genetic mutations, which can be useful in specifying the final diagnosis. Full article
(This article belongs to the Special Issue Diagnosis and Treatment of Amyotrophic Lateral Sclerosis: Where We Are and What We Can Expect in the Near Future)
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11 pages, 276 KiB  
Review
Cognitive and Behavioral Manifestations in ALS: Beyond Motor System Involvement
by Robert Rusina, Rik Vandenberghe and Rose Bruffaerts
Diagnostics 2021, 11(4), 624; https://doi.org/10.3390/diagnostics11040624 - 30 Mar 2021
Cited by 20 | Viewed by 4587
Abstract
Amyotrophic lateral sclerosis (ALS) has long been considered to be a purely motor disorder. However, it has become apparent that many ALS patients develop cognitive and behavioral manifestations similar to frontotemporal dementia and the term amyotrophic lateral sclerosis-frontotemporal spectrum disorder (ALS-FTSD) is now [...] Read more.
Amyotrophic lateral sclerosis (ALS) has long been considered to be a purely motor disorder. However, it has become apparent that many ALS patients develop cognitive and behavioral manifestations similar to frontotemporal dementia and the term amyotrophic lateral sclerosis-frontotemporal spectrum disorder (ALS-FTSD) is now used in these circumstances. This review is intended to be an overview of the cognitive and behavioral manifestations commonly encountered in ALS patients with the goal of improving case-oriented management in clinical practice. We introduce the principal ALS-FTSD subtypes and comment on their principal clinical manifestations, neuroimaging findings, neuropathological and genetic background, and summarize available therapeutic options. Diagnostic criteria for ALS-FTSD create distinct categories based on the type of neuropsychological manifestations, i.e., changes in behavior, impaired social cognition, executive dysfunction, and language or memory impairment. Cognitive impairment is found in up to 65%, while frank dementia affects about 15% of ALS patients. ALS motor and cognitive manifestations can worsen in parallel, becoming more pronounced when bulbar functions (affecting speech, swallowing, and salivation) are involved. Dementia can precede or develop after the appearance of motor symptoms. ALS-FTSD patients have a worse prognosis and shorter survival rates than patients with ALS or frontotemporal dementia alone. Important negative prognostic factors are behavioral and personality changes. From the clinician’s perspective, there are five major distinguishable ALS-FTSD subtypes: ALS with cognitive impairment, ALS with behavioral impairment, ALS with combined cognitive and behavioral impairment, fully developed frontotemporal dementia in combination with ALS, and comorbid ALS and Alzheimer’s disease. Although the most consistent ALS and ALS-FTSD pathology is a disturbance in transactive response DNA binding protein 43 kDa (TDP-43) metabolism, alterations in microtubule-associated tau protein metabolism have also been observed in ALS-FTSD. Early detection and careful monitoring of cognitive deficits in ALS are crucial for patient and caregiver support and enable personalized management of individual patient needs. Full article
(This article belongs to the Special Issue Diagnosis and Treatment of Amyotrophic Lateral Sclerosis: Where We Are and What We Can Expect in the Near Future)
13 pages, 324 KiB  
Review
Diagnostics of Amyotrophic Lateral Sclerosis: Up to Date
by Ivana Štětkářová and Edvard Ehler
Diagnostics 2021, 11(2), 231; https://doi.org/10.3390/diagnostics11020231 - 3 Feb 2021
Cited by 24 | Viewed by 4736
Abstract
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by gradual loss of upper and lower motor neurons and their pathways, usually without affecting the extraocular and sphincter muscles. The cause of the disease is not yet known. It is a chain [...] Read more.
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by gradual loss of upper and lower motor neurons and their pathways, usually without affecting the extraocular and sphincter muscles. The cause of the disease is not yet known. It is a chain of subsequent events, ending in programmed cell death in selective neuronal subpopulations. The prognosis for survival is rather short with a median of 2 to 4 years. Survival may be prolonged based on prompt diagnosis, ALS subtype and proper management with supportive treatment (tracheostomy, gastrostomy, etc.). According to the clinical picture, the typical form of ALS with upper and lower motoneuron involvement and progressive bulbar paralysis with bulbar muscle involvement is observed. The ALS form with progressive muscle atrophy, where only the lower motoneuron is affected, and primary lateral sclerosis with only upper motoneuron damage are rare. Familiar forms of ALS (FALS) associated with specific genes (the most common is C9orf72) have been discovered. FALS is usually associated with dementia (frontotemporal lobar dementia, FTLD), behavioral disorders, cognitive dysfunction and impairment of executive functions. The diagnosis of ALS is determined by excluding other conditions and utilizing clinical examinations, laboratory and genetic tests and nerve conduction/needle electromyography studies (EMG). Needle EMG records abnormal activities at rest and looks for neurogenic patterns during muscle contraction. Motor evoked potentials after transcranial magnetic stimulation remain the test of choice to identify impairment of upper motor neurons. New biochemical, neurophysiological and morphological biomarkers are extensively studied as early diagnostic and prognostic factors and have implications for clinical trials, research and drug development. Full article
(This article belongs to the Special Issue Diagnosis and Treatment of Amyotrophic Lateral Sclerosis: Where We Are and What We Can Expect in the Near Future)
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