title: Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression.
abstract: We report an Italian male with juvenile onset familial disease characterized by progressive weakness and wasting of four limbs and prolonged survival. Diagnostic work-up revealed the diffuse involvement of central and peripheral motor neurons. Genetic analysis revealed a L389S mutation in the senataxin (SETX) gene.
authors: Department of Laboratory Medicine, Medical Genetics, Milan, Italy.
authors: Francesca
authors: F
authors: Avemaria
authors: Christian
authors: C
authors: Lunetta
authors: Claudia
authors: C
authors: Tarlarini
authors: Lorena
authors: L
authors: Mosca
authors: Eleonora
authors: E
authors: Maestri
authors: Alessandro
authors: A
authors: Marocchi
authors: Mario
authors: M
authors: Melazzini
authors: Silvana
authors: S
authors: Penco
authors: Massimo
authors: M
authors: Corbo
mesh_terms: D017668:Age of Onset; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D004265:DNA Helicases; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D006801:Humans; D008297:Male; D064251:Multifunctional Enzymes; D020125:Mutation, Missense; D010375:Pedigree; D020365:RNA Helicases / Q000235:genetics*; D055815:Young Adult
chemical_list: D064251:Multifunctional Enzymes; C484368:SETX protein, human; D004265:DNA Helicases; D020365:RNA Helicases