title: Motor neuron, nerve, and neuromuscular junction disease.
abstract: OBJECTIVE
  The aim is to review the most relevant findings published during the last year concerning clinical, genetic, pathogenic, and therapeutic advances in motor neuron disease, neuropathies, and neuromuscular junction disorders.
  
  
  RESULTS
  Studies on animal and cell models have improved the understanding of how mutated survival motor neuron protein in spinal muscular atrophy governs the pathogenetic processes. New phenotypes of SOD1 mutations have been described. Moreover, animal models enhanced the insight into the pathogenetic background of sporadic and familial amyotrophic lateral sclerosis. Novel treatment options for motor neuron disease have been described in humans and animal models. Considerable progress has been achieved also in elucidating the genetic background of many forms of inherited neuropathies and high clinical and genetic heterogeneity has been demonstrated. Mutations in MuSK and GFTP1 have been shown to cause new types of congenital myasthenic syndromes. A third type of autoantibodies (Lrp4) has been detected to cause myasthenia gravis.
  
  
  CONCLUSIONS
  Advances in the clinical and genetic characterization of motor neuron diseases, neuropathies, and neuromuscular transmission defects have important implications on the fundamental understanding, diagnosis, and management of these disorders. Identification of crucial steps of the pathogenetic process may provide the basis for the development of novel therapeutic strategies.
authors.affiliation: Krankenanstalt Rudolfstiftung, Vienna, Austria. fifigs1@yahoo.de
authors.forename: Josef
authors.initials: J
authors.lastname: Finsterer
authors.forename: Lea
authors.initials: L
authors.lastname: Papić
authors.forename: Michaela
authors.initials: M
authors.lastname: Auer-Grumbach
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D006801:Humans; D016472:Motor Neuron Disease / Q000145:classification / Q000235:genetics / Q000473:pathology / Q000628:therapy; D020511:Neuromuscular Junction Diseases / Q000145:classification / Q000235:genetics / Q000473:pathology / Q000628:therapy; D010523:Peripheral Nervous System Diseases / Q000145:classification / Q000235:genetics / Q000473:pathology / Q000628:therapy