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Motoneuron Disease: Clinical

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Neurodegenerative Diseases

Part of the book series: Advances in Neurobiology ((NEUROBIOL,volume 15))

Abstract

ALS is a neurodegenerative disease in which the primary symptoms result in progressive neuromuscular weakness. Recent studies have highlighted that there is significant heterogeneity with regard to anatomical and temporal disease progression. Importantly, more recent advances in genetics have revealed new causative genes to the disease. New efforts have focused on the development of biomarkers that could aid in diagnosis, prognosis, and serve as pharmacodynamics markers. Although traditional pharmaceuticals continue to undergo trials for ALS, new therapeutic strategies including stem cell transplantation studies, gene therapies, and antisense therapies targeting some of the familial forms of ALS are gaining momentum.

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Abbreviations

ALS:

Amyotrophic lateral sclerosis

ALSFRS-R:

ALS functional rating scale-revised

ASO:

Antisense oligonucleotides

BMI:

Body mass index

CNS:

Central nervous system

CSF:

Cerebrospinal fluid

CT:

Computed tomography

DTI:

Diffusion tensor imaging

FDA:

Food and Drug Administration

FTD:

Frontotemporal dementia

FVC:

Forced vital capacity

GABA:

Gamma amino butyric acid

GRP:

Glial-restricted progenitor

IPSC:

Induced pluripotent stem cells

LMN:

Lower motor neuron

MRI:

Magnetic resonance imaging

MSC:

Mesenchymal stem cells

NF-H:

Neurofilament-heavy

NIV:

Noninvasive ventilation

PEG:

Percutaneous endoscopic gastrostomy

PLS:

Primary lateral sclerosis

PMA:

Progressive muscular atrophy

SOD1:

Superoxide dismutase 1

UMN:

Upper motor neuron

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Authors and Affiliations

  1. Department of Neurology, Johns Hopkins University, 855 N. Wolfe St., Rm 248, Baltimore, MD, 21205, USA

    Hristelina Ilieva M.D., Ph.D. & Nicholas J. Maragakis M.D.

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  1. Hristelina Ilieva M.D., Ph.D.
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  2. Nicholas J. Maragakis M.D.
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Correspondence to Nicholas J. Maragakis M.D. .

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Editors and Affiliations

  1. University of Melbourne Florey Institute of Neuroscience and Mental Health, Parkville, Australia

    Philip Beart

  2. Pediatrics and Pharmacology Children’s Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pennsylvania, USA

    Michael Robinson

  3. School of Life Sciences Bradford School of Pharmacy, University of Bradford, Bradford, United Kingdom

    Marcus Rattray

  4. Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

    Nicholas J. Maragakis

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Ilieva, H., Maragakis, N.J. (2017). Motoneuron Disease: Clinical. In: Beart, P., Robinson, M., Rattray, M., Maragakis, N. (eds) Neurodegenerative Diseases. Advances in Neurobiology, vol 15. Springer, Cham. https://doi.org/10.1007/978-3-319-57193-5_7

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