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 specifi c 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.

Amyotrophic lateral sclerosis: Genotypes and phenotypes / N. Ticozzi, V. Silani - In: Neurodegenerative Diseases : Clinical Aspects, Molecular Genetics and Biomarkers / [a cura di] D. Galimberti, E. Scarpini. - [s.l] : Springer-Verlag, 2014. - ISBN 9781447163794. - pp. 179-192 [10.1007/978-1-4471-6380-0_11]

Amyotrophic lateral sclerosis: Genotypes and phenotypes

Ticozzi N.;Silani V.
2014

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 specifi c 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.
Genetic epidemiology; Genotype-phenotype correlation; SOD1; TARDBP; FUS; C9orf72
Settore MED/26 - Neurologia
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/777006
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