A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD

Neurobiol Aging. 2011 Dec;32(12):2327.e1-5. doi: 10.1016/j.neurobiolaging.2011.06.009. Epub 2011 Jul 30.


We have recently published data showing that a founder mutation of the TARDBP gene (p.A382T) accounts for approximately one third of amyotrophic lateral sclerosis (ALS) cases on the Mediterranean island of Sardinia (Chiò et al., 2011). In that report, we identified a 53-year-old man carrying a homozygous A382T missense mutation of the TARDBP gene with a complex neurological syndrome including amyotrophic lateral sclerosis, parkinsonian features, motor and vocal tics, and frontotemporal dementia (FTD). Due to the uniqueness of this case, here we provide a detailed clinical description, as well as neurophysiological, neuropsychological, and neuroimaging data for that case and his extended family.

Publication types

  • Case Reports
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyotrophic Lateral Sclerosis / complications
  • Amyotrophic Lateral Sclerosis / diagnosis
  • Amyotrophic Lateral Sclerosis / genetics*
  • Basal Ganglia Diseases / complications
  • Basal Ganglia Diseases / diagnosis
  • Basal Ganglia Diseases / genetics*
  • DNA-Binding Proteins / genetics*
  • Frontotemporal Dementia / complications
  • Frontotemporal Dementia / diagnosis
  • Frontotemporal Dementia / genetics*
  • Heterozygote*
  • Homozygote
  • Humans
  • Male
  • Middle Aged
  • Mutation, Missense / genetics*
  • Pedigree
  • Syndrome


  • DNA-Binding Proteins