title: Clinical and genetic basis of familial amyotrophic lateral sclerosis.
abstract: Amyotrophic lateral sclerosis represents the most common neurodegenerative disease leading to upper and lower motor neuron compromise. Although the vast majority of cases are sporadic, substantial gain has been observed in the knowledge of the genetic forms of the disease, especially of familial forms. There is a direct correlation between the profile of the mutated genes in sporadic and familial forms, highlighting the main role of C9orf72 gene in the clinical forms associated with frontotemporal dementia spectrum. The different genes related to familial and sporadic forms represent an important advance on the pathophysiology of the disease and genetic therapeutic perspectives, such as antisense therapy. The objective of this review is to signal and summarize clinical and genetic data related to familial forms of amyotrophic lateral sclerosis.
authors.affiliation: Departamento de Neurologia e Neurocirurgia, Universidade Federal de São Paulo, Sao Paulo, SP, Brazil.
authors.forename: Paulo Victor Sgobbi de
authors.initials: PV
authors.lastname: Souza
authors.affiliation: Departamento de Neurologia e Neurocirurgia, Universidade Federal de São Paulo, Sao Paulo, SP, Brazil.
authors.forename: Wladimir Bocca Vieira de Rezende
authors.initials: WB
authors.lastname: Pinto
authors.affiliation: Departamento de Neurologia e Neurocirurgia, Universidade Federal de São Paulo, Sao Paulo, SP, Brazil.
authors.forename: Marco Antônio Troccoli
authors.initials: MA
authors.lastname: Chieia
authors.affiliation: Departamento de Neurologia e Neurocirurgia, Universidade Federal de São Paulo, Sao Paulo, SP, Brazil.
authors.forename: Acary Souza Bulle
authors.initials: AS
authors.lastname: Oliveira
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000145:classification / Q000235:genetics*; D000073885:C9orf72 Protein; D006801:Humans; D009154:Mutation / Q000235:genetics*; D011506:Proteins / Q000235:genetics*
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins