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

作者：Borghero Giuseppe; Floris Gianluca; Cannas Antonino; Marrosu Maria G; Murru Maria R; Costantino Emanuela; Parish Leslie D; Pugliatti Maura; Ticca Anna; Traynor Bryan J; Calvo Andrea; Cammarosano Stefania; Moglia Cristina; Cistaro Angelina; Brunetti Maura; Restagno Gabriella; Chio Adriano^*

来源：Neurobiology of Aging, 2011, 32(12): 2327.e1.

DOI：10.1016/j.neurobiolaging.2011.06.009

• amyotrophic lateral sclerosis
• frontotemporal dementia
• TARDBP
• homozygous mutation

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 (Chi 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.

• 出版日期2011-12