Amyotrophic lateral sclerosis (ALS) is a late onset, rapidly progressive and ultimately fatal neurodegenerative disease, caused by the loss of motor neurons in the brain and spinal cord. About 10% of all ALS cases are familial (FALS), and constitute a clinically and genetically heterogeneous entity. To date, FALS has been linked to mutations in 10 different genes and to four additional chromosomal loci. Research on FALS genetics, and in particular the discoveries of mutations in the SOD1, TARDBP, and FUS genes, has provided essential information toward the understanding of the pathogenesis of ALS in general. This review presents a tentative classification of all FALS-associated genes identified so far.

Genetics of Familial Amyotrophic Lateral Sclerosis / N. Ticozzi, C. Tiloca, C. Morelli, C. Colombrita, B. Poletti, A. Doretti, L. Maderna, S. Messina, A. Ratti, V. Silani. - In: ARCHIVES ITALIENNES DE BIOLOGIE. - ISSN 0003-9829. - 149:1(2011), pp. 65-82.

Genetics of Familial Amyotrophic Lateral Sclerosis

N. Ticozzi;C. Tiloca;C. Morelli;C. Colombrita;B. Poletti;A. Ratti;V. Silani
2011

Abstract

Amyotrophic lateral sclerosis (ALS) is a late onset, rapidly progressive and ultimately fatal neurodegenerative disease, caused by the loss of motor neurons in the brain and spinal cord. About 10% of all ALS cases are familial (FALS), and constitute a clinically and genetically heterogeneous entity. To date, FALS has been linked to mutations in 10 different genes and to four additional chromosomal loci. Research on FALS genetics, and in particular the discoveries of mutations in the SOD1, TARDBP, and FUS genes, has provided essential information toward the understanding of the pathogenesis of ALS in general. This review presents a tentative classification of all FALS-associated genes identified so far.
amyotrophic lateral sclerosis; FUS; genetics; SOD1; TARDBP
Settore MED/26 - Neurologia
Settore MED/03 - Genetica Medica
Settore M-PSI/08 - Psicologia Clinica
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/157260
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