title: Co-occurrence of progressive anarthria with an S393L TARDBP mutation and ALS within a family.
abstract: Progressive anarthria is usually classified as a tau pathology. We report an 87-year-old female with a family history of ALS and Parkinsonism, presenting with progressive anarthria. Molecular genetics analyses showed a heterozygous mutation S393L on exon 6 of the TARDBP gene. It has been previously reported in sporadic and familial amyotrophic lateral sclerosis. This case strengthens the hypothesis of a continuum between motor neuron disease and frontotemporal lobar degeneration among TDP-43 proteinopathies.
authors.affiliation: ALS Centre, Service de Neurologie et de Neurophysiologie Clinique, CHU Bretonneau, 2 boulevard Tonnellé, Tours Cedex 9, France. julien.praline@univ-tours.fr
authors.forename: Julien
authors.initials: J
authors.lastname: Praline
authors.forename: Patrick
authors.initials: P
authors.lastname: Vourc'h
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Guennoc
authors.forename: Charlotte
authors.initials: C
authors.lastname: Veyrat-Durebex
authors.forename: Philippe
authors.initials: P
authors.lastname: Corcia
mesh_terms: D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000453:epidemiology* / Q000235:genetics* / Q000503:physiopathology*; D015897:Comorbidity; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D057177:TDP-43 Proteinopathies / Q000453:epidemiology* / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*
chemical_list: D004268:DNA-Binding Proteins