Recent progress in the genetics of motor neuron disease.

摘要: Abstract Background Genetic background and pathogenesis of motor neuron diseases (MNDs) have been increasingly elucidated over recent years. Aims To give an overview about publications during the last year concerning genetic phenotypic manifestations MNDs, such as familial or sporadic amyotrophic lateral sclerosis (fALS, sALS), spinal muscular atrophies (SMA), bulbospinal atrophy (BSMA), unclassified MNDs. Methods Pubmed search for literature ALS, SMA, BSMA period 10/2012 to 9/2013. Results An increasing number mutated genes is recognised in fALS but also sALS patients. Genes include C9orf72, SOD1, TARDBP, FUS, UBQL2, SQSTM1, DCTN1, UNC13A. Juvenile (onset 60 y) are differentiated. most frequently caused by mutations ALS2, SETX, spatacsin, Sigmar1 adult FUS. Onset, phenotype, progression, outcome ALS variable between different mutations, genes, countries. Differentiation cases becomes artificial. Conclusions Further progress has made clarification understanding aetiology However, further effort needed answer many remaining questions.