VAPB

Although cases of amyotrophic lateral sclerosis (ALS) were described in the early and mid-19th century, in 1874, Jean-Martin Charcot was the first to recognize the salient clinical and pathologic features of this fatal neurodegenerative disorder.1,2 During this period, medical science had few tools other than clinical examination and light microscopy to characterize diseases. Since then, much has been learned about ALS, yet much remains unknown despite technological advances and efforts of numerous clinical investigators.3 Molecular genetic studies in the last two decades have provided new insights into the pathogenesis of ALS.4,5 Sporadic ALS (SALS) accounts for about 90% of cases while the remaining 10% are familial (FALS). Mutations in superoxide dismutase 1 ( SOD1 ) have been identified as causes of autosomal dominant ALS while autosomal recessive cases have been associated with mutations in the alsin ( ALS2 ), senataxin ( SETX ), dynactin ( DCTN1 …