Amyotrophic lateral sclerosis and frontotemporal lobar degeneration

T. Hortobágyi, Nigel J. Cairns

Research output: Chapter in Book/Report/Conference proceedingChapter

9 Citations (Scopus)

Abstract

Introduction Amyotrophic lateral sclerosis/motor neuron disease (ALS/MND) is a relentlessly progressive neurological disorder affecting motor neurons. Clinically, there is progressive muscle wasting. Involvement of respiratory muscles is a key feature, and usually the inability of normal respiration leads to the death of the patient. In a subgroup, the respiratory muscle involvement occurs early (bulbar-onset cases); therefore, these patients have a shorter disease duration. The eye muscles and sphincters are spared. Amyotrophic lateral sclerosis is not a rare disease, with a lifetime risk of 1:1000 and a male predominance (~2:1). Due to the rather short survival time, on average 3–4 years, the prevalence is not that high, which could be a reason why there is the general belief that it is a rare disease. Amyotrophic lateral sclerosis has increasing incidence with advancing age. However, it is important to emphasize that patients as young as in their teens also may be affected, and the early-onset cases are usually familial with an autosomal-dominant inheritance. Another traditional misconception has been that ALS affects only motor neurons. Nowadays, it is widely acknowledged that ALS is a multi-system disorder involving several non-motor brain regions. However, there is no doubt that there is a selective vulnerability of motor neurons with the hallmark neurogenic atrophy of striated muscles. The etiology and pathogenesis of sporadic ALS remain largely unknown. Recent discoveries of mutations in several genes indicate that the genetic background of the disease is very heterogeneous and that multiple cellular pathways are likely to contribute to neuronal loss.

Original languageEnglish
Title of host publicationNeuropathology of Neurodegenerative Diseases: A Practical Guide
PublisherCambridge University Press
Pages209-248
Number of pages40
ISBN (Print)9781107588660, 9781107674202
DOIs
Publication statusPublished - Jan 1 2014

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Frontotemporal Lobar Degeneration
Amyotrophic Lateral Sclerosis
Motor Neurons
Respiratory Muscles
Rare Diseases
Muscles
Inborn Genetic Diseases
Striated Muscle
Nervous System Diseases
Atrophy
Respiration
Mutation
Survival
Incidence
Brain
Genes

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Hortobágyi, T., & Cairns, N. J. (2014). Amyotrophic lateral sclerosis and frontotemporal lobar degeneration. In Neuropathology of Neurodegenerative Diseases: A Practical Guide (pp. 209-248). Cambridge University Press. https://doi.org/10.1017/CBO9781107588660.012

Amyotrophic lateral sclerosis and frontotemporal lobar degeneration. / Hortobágyi, T.; Cairns, Nigel J.

Neuropathology of Neurodegenerative Diseases: A Practical Guide. Cambridge University Press, 2014. p. 209-248.

Research output: Chapter in Book/Report/Conference proceedingChapter

Hortobágyi, T & Cairns, NJ 2014, Amyotrophic lateral sclerosis and frontotemporal lobar degeneration. in Neuropathology of Neurodegenerative Diseases: A Practical Guide. Cambridge University Press, pp. 209-248. https://doi.org/10.1017/CBO9781107588660.012
Hortobágyi T, Cairns NJ. Amyotrophic lateral sclerosis and frontotemporal lobar degeneration. In Neuropathology of Neurodegenerative Diseases: A Practical Guide. Cambridge University Press. 2014. p. 209-248 https://doi.org/10.1017/CBO9781107588660.012
Hortobágyi, T. ; Cairns, Nigel J. / Amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Neuropathology of Neurodegenerative Diseases: A Practical Guide. Cambridge University Press, 2014. pp. 209-248
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