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Amyotrophic Lateral Sclerosis: Genotypes and Phenotypes

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Neurodegenerative Diseases

Abstract

Mendelian forms of amyotrophic lateral sclerosis (ALS) account for nearly 10 % of all cases. To date, 19 disease genes, usually but not exclusively inherited with an autosomal dominant pattern, have been reported to be associated with ALS or with atypical motor neuron diseases with or without associated frontotemporal dementia (ALS-FTD). Often, it is possible to draw correlations between distinct ALS-associated mutations and specific clinical phenotypes. This information is essential for biologists and clinicians alike, providing at the same time an unparalleled insight into the pathogenesis of the disease and invaluable tools for genetic counseling, diagnosis, and development of preventive strategies and treatments for ALS.

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Authors and Affiliations

  1. Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, P.le Brescia 20, Milan, 20149, Italy

    Nicola Ticozzi MD & Vincenzo Silani MD

  2. Department of Pathophysiology and Transplantation, Dino Ferrari Center, Università degli Studi di Milano, Milan, Italy

    Nicola Ticozzi MD & Vincenzo Silani MD

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  1. Nicola Ticozzi MD
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  2. Vincenzo Silani MD
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Correspondence to Vincenzo Silani MD .

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Editors and Affiliations

  1. Neurology Unit, Alzheimer Center, Neurology Unit, University of Milan, Fondazione Ca’ Granda, IRCCS Ospedale Policlinico, Milan, Italy

    Daniela Galimberti

  2. Neurology Unit, Alzheimer Center, Neurology Unit, University of Milan, Fondazione Ca’ Granda, IRCCS Ospedale Policlinico, Milan, Italy

    Elio Scarpini

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Ticozzi, N., Silani, V. (2014). Amyotrophic Lateral Sclerosis: Genotypes and Phenotypes. In: Galimberti, D., Scarpini, E. (eds) Neurodegenerative Diseases. Springer, London. https://doi.org/10.1007/978-1-4471-6380-0_11

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  • DOI: https://doi.org/10.1007/978-1-4471-6380-0_11

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